Pub Date : 2021-01-01DOI: 10.35841/GENETICS-MOLECULAR-BIOLOGY.3.20-30
Vilchis Om, Madrigal Ea, Obadilla Rlh, Zarco-González Mm, A. Sunny, Akerberg Va
The most important factor leading to amphibian population declines and extinctions is habitat degradation and destruction. To help prevent further extinctions, studies are needed to make appropriate conservation decisions in small and fragmented populations. The studied mole salamanders are micro-endemic, and their habitat is found in the most ecologically disturbed region in Mexico: The Trans-Mexican Volcanic Belt. The goal of this study was to provide data from the population genetics of two micro-endemic mole salamanders that can be used as a basis for future research and conservation planning of these species and other amphibian species of this region of Mexico. We analysed the genetic diversity and structure, effective population size, the presence of bottlenecks and inbreeding coefficient of 152 individuals from two Ambystoma species. For A. altamirani, two locations were sampled, as well as for A. rivualre; 38 tissues were collected from each locality. We found medium to high levels of genetic diversity expressed as heterozygosity in the populations. However, all the populations presented few alleles per locus and genotypes. Each sampled locality represents a population with a significant level of genetic structure. The effective population size is small but similar to that of the studies from other mole salamanders with restricted distributions or with recently fragmented habitats. Despite the high levels of genetic diversity found, the populations are going through bottleneck processes and their habitats are fragmenting and degrading. Therefore, this study is important to propose better management plans and conservation efforts for these species.
{"title":"Genetic diversity and structure of two populations of Ambystoma altamirani and A. rivulare of the trans-Mexican volcanic belt.","authors":"Vilchis Om, Madrigal Ea, Obadilla Rlh, Zarco-González Mm, A. Sunny, Akerberg Va","doi":"10.35841/GENETICS-MOLECULAR-BIOLOGY.3.20-30","DOIUrl":"https://doi.org/10.35841/GENETICS-MOLECULAR-BIOLOGY.3.20-30","url":null,"abstract":"The most important factor leading to amphibian population declines and extinctions is habitat degradation and destruction. To help prevent further extinctions, studies are needed to make appropriate conservation decisions in small and fragmented populations. The studied mole salamanders are micro-endemic, and their habitat is found in the most ecologically disturbed region in Mexico: The Trans-Mexican Volcanic Belt. The goal of this study was to provide data from the population genetics of two micro-endemic mole salamanders that can be used as a basis for future research and conservation planning of these species and other amphibian species of this region of Mexico. We analysed the genetic diversity and structure, effective population size, the presence of bottlenecks and inbreeding coefficient of 152 individuals from two Ambystoma species. For A. altamirani, two locations were sampled, as well as for A. rivualre; 38 tissues were collected from each locality. We found medium to high levels of genetic diversity expressed as heterozygosity in the populations. However, all the populations presented few alleles per locus and genotypes. Each sampled locality represents a population with a significant level of genetic structure. The effective population size is small but similar to that of the studies from other mole salamanders with restricted distributions or with recently fragmented habitats. Despite the high levels of genetic diversity found, the populations are going through bottleneck processes and their habitats are fragmenting and degrading. Therefore, this study is important to propose better management plans and conservation efforts for these species.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"36 1","pages":"20-30"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74718148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-10-23DOI: 10.11648/J.IJGG.20200804.12
Dian Sulistya Ekaputri, I. Sidiartha, I. Pratiwi
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest fatty acid oxidation disorder. Patients usually presented between the ages of 4 months and 4 years with acute hypoglycaemic encephalopathy and liver dysfunction; some deteriorated rapidly and died. Symptomatic presentation of MCADD is precipitated by fasting due to infection, characterized by metabolic crisis, includes lethargy, vomiting, hypoketotic hypoglycaemia, and encephalopathy, and could progress to coma and death. MCADD is not part of new-born screening in Indonesia; children are likely to be missed if routine hypoglycaemia screening is not instituted. This is a case of an otherwise healthy 8-month-old baby boy who presented with recurrent infection followed by severe hypoglycaemia and cow’s milk protein allergy presentation with some initial diagnostic dilemma. This study was to describe the clinical manifestation, workup diagnostic, and management in children with MCADD disorder. An eight-months-old boy came with recurrent hypoglycaemia following infections. Blood gas analysis showed acidosis metabolic with increase anion gap. Patient was moderate malnutrition due to recurrent illness. There was no consanguineous in his parents. Laboratory test revealed leucocytosis, hypoglycaemia, and metabolic acidosis. No ketone on urine sample. Short chain fatty acid decrease. Ig-E total increase and benzidine test positive. Dried blood spots and urine spot by liquid chromatography-tandem mass spectrometry revealed of MCADD. Patient was given intravenous fluid containing dextrose, treated by antibiotics for infection, and recovered after few days hospitalization. Patient was also given amino-acid-based formula and he responds was good. Parent were educated for the illness and told to avoided fasting for long period. Children with MCADD should remain under follow-up with a specialist Metabolic Paediatrician Consultant and Dietician with regular reviews in early childhood. Parents should be allowed direct access to the local hospital’s paediatric service so that lengthy waits in emergency departments are avoided.
{"title":"Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case of Recurrent Vomiting and Diarrhea","authors":"Dian Sulistya Ekaputri, I. Sidiartha, I. Pratiwi","doi":"10.11648/J.IJGG.20200804.12","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200804.12","url":null,"abstract":"Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest fatty acid oxidation disorder. Patients usually presented between the ages of 4 months and 4 years with acute hypoglycaemic encephalopathy and liver dysfunction; some deteriorated rapidly and died. Symptomatic presentation of MCADD is precipitated by fasting due to infection, characterized by metabolic crisis, includes lethargy, vomiting, hypoketotic hypoglycaemia, and encephalopathy, and could progress to coma and death. MCADD is not part of new-born screening in Indonesia; children are likely to be missed if routine hypoglycaemia screening is not instituted. This is a case of an otherwise healthy 8-month-old baby boy who presented with recurrent infection followed by severe hypoglycaemia and cow’s milk protein allergy presentation with some initial diagnostic dilemma. This study was to describe the clinical manifestation, workup diagnostic, and management in children with MCADD disorder. An eight-months-old boy came with recurrent hypoglycaemia following infections. Blood gas analysis showed acidosis metabolic with increase anion gap. Patient was moderate malnutrition due to recurrent illness. There was no consanguineous in his parents. Laboratory test revealed leucocytosis, hypoglycaemia, and metabolic acidosis. No ketone on urine sample. Short chain fatty acid decrease. Ig-E total increase and benzidine test positive. Dried blood spots and urine spot by liquid chromatography-tandem mass spectrometry revealed of MCADD. Patient was given intravenous fluid containing dextrose, treated by antibiotics for infection, and recovered after few days hospitalization. Patient was also given amino-acid-based formula and he responds was good. Parent were educated for the illness and told to avoided fasting for long period. Children with MCADD should remain under follow-up with a specialist Metabolic Paediatrician Consultant and Dietician with regular reviews in early childhood. Parents should be allowed direct access to the local hospital’s paediatric service so that lengthy waits in emergency departments are avoided.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"90 1","pages":"127"},"PeriodicalIF":0.0,"publicationDate":"2020-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78415376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-10-17DOI: 10.11648/J.IJGG.20200804.11
Anthony Simiyu Mabele, M. Were
Synergism among the groundnut rosette disease (GRD) pathogens of Groundnut rosette assistor virus (GRAV, Luteovirus) and Groundnut rosette virus (GRV, Umbravirus) associated with a satellite-ribonucleic acid (sat-RNA), have declined groundnut (Peanut, Arachis hypogaea L.) production in Kenya. The polyphagous groundnut aphid (Aphis craccivora Koch; Homoptera: Aphididae) efficiently transmits GRD in sub-Saharan Africa. Inadequate information available on the pathosystem, epiphytology and genomic characterization of GRAV, GRV and sat-RNA pathogens in Kenya, have hampered control and management technologies due to their intimate complex etiology, the bottleneck which this study unravels. A survey of GRD was conducted in western Kenya among the four counties of Bungoma, Busia, Kisumu and Kisii during the short rains season of 2019. A total of 10 symptomatic leaf samples were selected from the collected samples and preserved until use. Total RNA was extracted from the symptomatic leaf samples using GeneJET Plant RNA Purification Mini Kit according to the manufacturers’ protocol. RT-PCR detection of GRD pathogens was done using specific primers of GRAV, GRV and sat-RNA. DNA libraries were prepared and sequenced using the Sanger sequencing platform. Phylogenetic analyses and comparisons were performed using MEGA X software. The sequence quality were checked based on the peak of the electrophoregram and trimmed using CLC main work bench v20. The sequences were assembled with final consensus exported as FASTA file format and BLAST searched against NCBI database using BLASTn. The BLAST hit with nucleotide identity of at least 97% identity were considered, downloaded, uploaded to MEGA X and multiple alignment done with Gap Opening Penalty of 15 and Gap Extension Penalty of 5.5. Phylogenetic trees were constructed with best DNA/Protein model based on automatic Neighbor Joining Tree and Maximum Likelihood method of nucleotides substitution by Kimura 2 Parameter with Invariant Plus Gamma. The two GRAV isolates from Kenya (Ken_G10 and Ken_G2) clustered together in group II while the rest clustered in group I. The Kenyan novel GRAV isolates are more similar to each other than with any other sequences implying common ancestry than with the other African isolates. The Kenyan sat-RNA isolates formed two distinct groups with sub-groups within the clusters. Isolates Ken_G11 and Ken_G6 clustered together in group II while Ken_G10 and Ken_G7 clustered together in group I. Ken_G6 clustered with other Kenyan sat-RNA isolates implying a possible identity by descent (IBD), suggesting a possible impact of a genetic bottleneck whose cause should be investigated further to infer any conclusions.
{"title":"Pathosystem, Epiphytology and Genomic Characterization of Groundnut Rosette Disease Pathogens","authors":"Anthony Simiyu Mabele, M. Were","doi":"10.11648/J.IJGG.20200804.11","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200804.11","url":null,"abstract":"Synergism among the groundnut rosette disease (GRD) pathogens of Groundnut rosette assistor virus (GRAV, Luteovirus) and Groundnut rosette virus (GRV, Umbravirus) associated with a satellite-ribonucleic acid (sat-RNA), have declined groundnut (Peanut, Arachis hypogaea L.) production in Kenya. The polyphagous groundnut aphid (Aphis craccivora Koch; Homoptera: Aphididae) efficiently transmits GRD in sub-Saharan Africa. Inadequate information available on the pathosystem, epiphytology and genomic characterization of GRAV, GRV and sat-RNA pathogens in Kenya, have hampered control and management technologies due to their intimate complex etiology, the bottleneck which this study unravels. A survey of GRD was conducted in western Kenya among the four counties of Bungoma, Busia, Kisumu and Kisii during the short rains season of 2019. A total of 10 symptomatic leaf samples were selected from the collected samples and preserved until use. Total RNA was extracted from the symptomatic leaf samples using GeneJET Plant RNA Purification Mini Kit according to the manufacturers’ protocol. RT-PCR detection of GRD pathogens was done using specific primers of GRAV, GRV and sat-RNA. DNA libraries were prepared and sequenced using the Sanger sequencing platform. Phylogenetic analyses and comparisons were performed using MEGA X software. The sequence quality were checked based on the peak of the electrophoregram and trimmed using CLC main work bench v20. The sequences were assembled with final consensus exported as FASTA file format and BLAST searched against NCBI database using BLASTn. The BLAST hit with nucleotide identity of at least 97% identity were considered, downloaded, uploaded to MEGA X and multiple alignment done with Gap Opening Penalty of 15 and Gap Extension Penalty of 5.5. Phylogenetic trees were constructed with best DNA/Protein model based on automatic Neighbor Joining Tree and Maximum Likelihood method of nucleotides substitution by Kimura 2 Parameter with Invariant Plus Gamma. The two GRAV isolates from Kenya (Ken_G10 and Ken_G2) clustered together in group II while the rest clustered in group I. The Kenyan novel GRAV isolates are more similar to each other than with any other sequences implying common ancestry than with the other African isolates. The Kenyan sat-RNA isolates formed two distinct groups with sub-groups within the clusters. Isolates Ken_G11 and Ken_G6 clustered together in group II while Ken_G10 and Ken_G7 clustered together in group I. Ken_G6 clustered with other Kenyan sat-RNA isolates implying a possible identity by descent (IBD), suggesting a possible impact of a genetic bottleneck whose cause should be investigated further to infer any conclusions.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"124 1","pages":"120"},"PeriodicalIF":0.0,"publicationDate":"2020-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76698994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-25DOI: 10.11648/J.IJGG.20200803.13
Ndime Fama, Tendeng Jacques Noël, Kénémé Bineta, S. Mbacke
Uterine Leiomyoma are a very common benign tumors, affecting 20-30% of the female population over 35 years of age. Black women are the most affected compared to Caucasian women. In order to determine the genetic mecanisms involved in uterine fibroids in senegalese women, the study of penetrance of mutations of exon 4 of the gene was carried out. Our study is based on 27 patients with uterine fibroids. Samples of tumour tissue and blood were taken from each patient. After PCR-Sequencing, identification of mutations was carried out using Mutation Surveyor 5.0.1 and AlamutVisual 2.12 software. Pathogenicity mutations was evaluated with Polyphen-2, Mutation Taster and SIFT. After cleaning, correcting and aligning of sequences with BioEdit software, nucleotide variability, diversity, genetic evolution, correlation of tumors with epidemiological factors and tumors prevalence were determined with Dnasp 5.10.01, MEGA 7.0.14, Arlequin 3.5.3.1 and Rstudio 3.5.1 statistical software. Our results showed a high rate of polymorphism in tumour tissues (19 mutations) compared to blood samples (1 single mutation) but also a genetic difference between tumour and blood tissues. Mutations c.164C>A and c.215C>G affecting respectively codon 55 and 72 of p53 gene were significantly present in uterine fibroids tissues compared to blood. A first time mutation at position c.326T>C located in a specific DNA binding domain (a highly conserved area) and having pathological effects was found in uterine myomas. They also showed a structuring of the leiomyomas according to the age of the patient (30-40 years are the most affected). In conclusion, this is a fist study in Senegal associating the polymorphism of the p53 gene and the occurrence of uterine fibroids showing that some of variants found in tumour tissues could constitute a susceptibility factor in Senegalese women.
{"title":"Penetrance of the p53 Gene in Uterine Fibroids in Senegalese Women","authors":"Ndime Fama, Tendeng Jacques Noël, Kénémé Bineta, S. Mbacke","doi":"10.11648/J.IJGG.20200803.13","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200803.13","url":null,"abstract":"Uterine Leiomyoma are a very common benign tumors, affecting 20-30% of the female population over 35 years of age. Black women are the most affected compared to Caucasian women. In order to determine the genetic mecanisms involved in uterine fibroids in senegalese women, the study of penetrance of mutations of exon 4 of the gene was carried out. Our study is based on 27 patients with uterine fibroids. Samples of tumour tissue and blood were taken from each patient. After PCR-Sequencing, identification of mutations was carried out using Mutation Surveyor 5.0.1 and AlamutVisual 2.12 software. Pathogenicity mutations was evaluated with Polyphen-2, Mutation Taster and SIFT. After cleaning, correcting and aligning of sequences with BioEdit software, nucleotide variability, diversity, genetic evolution, correlation of tumors with epidemiological factors and tumors prevalence were determined with Dnasp 5.10.01, MEGA 7.0.14, Arlequin 3.5.3.1 and Rstudio 3.5.1 statistical software. Our results showed a high rate of polymorphism in tumour tissues (19 mutations) compared to blood samples (1 single mutation) but also a genetic difference between tumour and blood tissues. Mutations c.164C>A and c.215C>G affecting respectively codon 55 and 72 of p53 gene were significantly present in uterine fibroids tissues compared to blood. A first time mutation at position c.326T>C located in a specific DNA binding domain (a highly conserved area) and having pathological effects was found in uterine myomas. They also showed a structuring of the leiomyomas according to the age of the patient (30-40 years are the most affected). In conclusion, this is a fist study in Senegal associating the polymorphism of the p53 gene and the occurrence of uterine fibroids showing that some of variants found in tumour tissues could constitute a susceptibility factor in Senegalese women.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"101 1","pages":"106"},"PeriodicalIF":0.0,"publicationDate":"2020-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88149531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-25DOI: 10.11648/J.IJGG.20200803.14
Janeth I. Galarza, K. Crespín, Carolina Tufiño
Tetraselmis is a genus of quadriflagellated single-celled green algae belonging to the Phylum Chlorophyta, commonly used in aquaculture with very promising biotechnological potential. The varied morphological characteristics, in some cases, have led to confusion in taxonomic identification. To solve this problem, new techniques based on molecular markers and restriction enzymes can ensure the identification of microalgae without sequencing. This study aimed to compare in silico modeling with an experimental restriction pattern based on the 18S rDNA gene for the identification of a microalgae strain. The strain grew in a culture medium, based on organic fertilizer. Theoretical analyses allowed the design of three primers based on the alignment of eight sequences obtained from NCBI, applying the Geneious Prime® 2019 and V1.3 and Oligo Calculator version 3.2. programs. The in silico restriction patterns was obtained with the NEBcutter v2.0 program. Experimental analyses began with the extraction of the DNA using the TENS protocol, then PCR amplification using PM-016F/PM-016R and PM-001F/PM-016R primers of 18S rDNA and finally the product was digested with BbvCI and Eco53kI; BstUI, RsaI and MspI enzymes. The DNA concentration extraction reached 3200 ng µl-1 and a purity of 2.0. The PCR amplified two products: 950 bp and 1400 bp, which brought us closer to identifying the microalgae. The in silico modeling and experimental restriction patterns showed similar fragments. In this way, the efficient response of restriction enzymes was demonstrated by confirming that the PM013 strain corresponds to the Tetraselmis genus. This method can be considered as a fast and safe alternative to identify wild microalgae in a basic molecular biology laboratory.
{"title":"Rapid Molecular Identification of Tetraselmis Using Enzymatic Digestion of the 18S rDNA Gene","authors":"Janeth I. Galarza, K. Crespín, Carolina Tufiño","doi":"10.11648/J.IJGG.20200803.14","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200803.14","url":null,"abstract":"Tetraselmis is a genus of quadriflagellated single-celled green algae belonging to the Phylum Chlorophyta, commonly used in aquaculture with very promising biotechnological potential. The varied morphological characteristics, in some cases, have led to confusion in taxonomic identification. To solve this problem, new techniques based on molecular markers and restriction enzymes can ensure the identification of microalgae without sequencing. This study aimed to compare in silico modeling with an experimental restriction pattern based on the 18S rDNA gene for the identification of a microalgae strain. The strain grew in a culture medium, based on organic fertilizer. Theoretical analyses allowed the design of three primers based on the alignment of eight sequences obtained from NCBI, applying the Geneious Prime® 2019 and V1.3 and Oligo Calculator version 3.2. programs. The in silico restriction patterns was obtained with the NEBcutter v2.0 program. Experimental analyses began with the extraction of the DNA using the TENS protocol, then PCR amplification using PM-016F/PM-016R and PM-001F/PM-016R primers of 18S rDNA and finally the product was digested with BbvCI and Eco53kI; BstUI, RsaI and MspI enzymes. The DNA concentration extraction reached 3200 ng µl-1 and a purity of 2.0. The PCR amplified two products: 950 bp and 1400 bp, which brought us closer to identifying the microalgae. The in silico modeling and experimental restriction patterns showed similar fragments. In this way, the efficient response of restriction enzymes was demonstrated by confirming that the PM013 strain corresponds to the Tetraselmis genus. This method can be considered as a fast and safe alternative to identify wild microalgae in a basic molecular biology laboratory.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"7 1","pages":"114"},"PeriodicalIF":0.0,"publicationDate":"2020-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84291691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-22DOI: 10.11648/J.IJGG.20200803.12
P. Osho, M. O. Ojo, E. Osho, Ndidi Aisha Okunnuga, O. Oni, Olugbenga Festus Fabusiwa
Sickle cell anaemia and Glucose-6-phosphate dehydrogenase deficiency have anaemia as major clinical consequence. The two disorders are rarely co-expressed in a patient. However, the pathological co-existence of both disorders tends to worsen and aggravate the clinical presentation in affected individuals. We report a diagnosis of the co-inheritance of these two disorders in a 43 year old man who was diagnosed with SCA at childhood. He was managed in a secondary health care facility since child hood. He has had multiple blood transfusions on account of repeated episodes of haemolytic anaemia which was solely attributed to SCA. He was referenced our center on account of recurrent severe heamolytic anaemia with a PCV of 9%. In the preceding 2 months to detecting his G6PD deficient status, he was having monthly blood transfusions on account of severe anaemia. Following the detection of his G6PD deficiency status and appropriate intervention with glutathione and selenium supplements and counseling to avoid exposure to oxidizing agents, he had a respite in the frequency of acute episodes of haemolysis necessitating blood transfusion, as well as an improvement in his steady state PCV of 16%. This case report underscores the importance of routine screening for G6PD status in patients with SCA so as to institute appropriate measures to reduce the worsening of incidence of acute episodes of haemolysis and the need for recurrent blood transfusions on account of this.
{"title":"Impact of Glucose-6-phosphate Dehydrogenase Deficiency on Sickle Cell Anaemia Expression: A Case Report","authors":"P. Osho, M. O. Ojo, E. Osho, Ndidi Aisha Okunnuga, O. Oni, Olugbenga Festus Fabusiwa","doi":"10.11648/J.IJGG.20200803.12","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200803.12","url":null,"abstract":"Sickle cell anaemia and Glucose-6-phosphate dehydrogenase deficiency have anaemia as major clinical consequence. The two disorders are rarely co-expressed in a patient. However, the pathological co-existence of both disorders tends to worsen and aggravate the clinical presentation in affected individuals. We report a diagnosis of the co-inheritance of these two disorders in a 43 year old man who was diagnosed with SCA at childhood. He was managed in a secondary health care facility since child hood. He has had multiple blood transfusions on account of repeated episodes of haemolytic anaemia which was solely attributed to SCA. He was referenced our center on account of recurrent severe heamolytic anaemia with a PCV of 9%. In the preceding 2 months to detecting his G6PD deficient status, he was having monthly blood transfusions on account of severe anaemia. Following the detection of his G6PD deficiency status and appropriate intervention with glutathione and selenium supplements and counseling to avoid exposure to oxidizing agents, he had a respite in the frequency of acute episodes of haemolysis necessitating blood transfusion, as well as an improvement in his steady state PCV of 16%. This case report underscores the importance of routine screening for G6PD status in patients with SCA so as to institute appropriate measures to reduce the worsening of incidence of acute episodes of haemolysis and the need for recurrent blood transfusions on account of this.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"17 1","pages":"102"},"PeriodicalIF":0.0,"publicationDate":"2020-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81749469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-09DOI: 10.11648/J.IJGG.20200803.11
N. Kaur, M. Eltom, Karen Cheung, S. Banka, L. Mohiyiddeen
The role of p53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome is controversial and research so far has yielded inconsistent results. This systematic review aims to summarise the literature on the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss following natural and assisted conception. A comprehensive literature search was conducted on MEDLINE, EMBASE and CENTRAL electronic databases for literature published between 1998 and April 2020. Inclusion and exclusion criteria and search terms were established. References of retrieved articles were hand searched to identify other relevant papers including conference abstracts. In total, 9 case control studies (1041 patients), 6 case control studies (382 patients) and 7 studies (3403) were included examining the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome respectively. Combined genotype frequencies suggest that there may be an association between Pro/Pro genotype and recurrent pregnancy loss and Arg/Pro genotype and recurrent implantation failure. However, the association between TP53 p.Arg72Pro variant and recurrent pregnancy loss, recurrent implantation failure or IVF outcomes has not been clearly established. In conclusion, genotyping patients for the TP53 variant may enable us to identify an aetiology for patients experiencing unexplained recurrent pregnancy loss and detect individuals at risk of recurrent implantation failure before IVF treatment is initiated. Furthermore, exploring the mechanisms of action of the p53 protein may provide us with an insight into potential treatments.
{"title":"Role of P53 p.Arg72Pro Variant in Recurrent Pregnancy Loss, Recurrent Implantation Failure and IVF Outcome","authors":"N. Kaur, M. Eltom, Karen Cheung, S. Banka, L. Mohiyiddeen","doi":"10.11648/J.IJGG.20200803.11","DOIUrl":"https://doi.org/10.11648/J.IJGG.20200803.11","url":null,"abstract":"The role of p53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome is controversial and research so far has yielded inconsistent results. This systematic review aims to summarise the literature on the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss following natural and assisted conception. A comprehensive literature search was conducted on MEDLINE, EMBASE and CENTRAL electronic databases for literature published between 1998 and April 2020. Inclusion and exclusion criteria and search terms were established. References of retrieved articles were hand searched to identify other relevant papers including conference abstracts. In total, 9 case control studies (1041 patients), 6 case control studies (382 patients) and 7 studies (3403) were included examining the role of TP53 p.Arg72Pro variant in recurrent pregnancy loss, recurrent implantation failure and IVF outcome respectively. Combined genotype frequencies suggest that there may be an association between Pro/Pro genotype and recurrent pregnancy loss and Arg/Pro genotype and recurrent implantation failure. However, the association between TP53 p.Arg72Pro variant and recurrent pregnancy loss, recurrent implantation failure or IVF outcomes has not been clearly established. In conclusion, genotyping patients for the TP53 variant may enable us to identify an aetiology for patients experiencing unexplained recurrent pregnancy loss and detect individuals at risk of recurrent implantation failure before IVF treatment is initiated. Furthermore, exploring the mechanisms of action of the p53 protein may provide us with an insight into potential treatments.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"204 1","pages":"94"},"PeriodicalIF":0.0,"publicationDate":"2020-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76066932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. C. Ouédraogo, F. Djigma, Boureima Idani, T. Zohoncon, P. A. Sorgho, P. Bado, M. Traore, A. Ouattara, Marius Ayaovi Setor, Shoukrat Ohuwa Toyin Bello, S. Karou, A. Horo, K. P. Kouakou, M. Gomina, M. Nayama, D. Capo‐Chichi, A. Sanni, D. Obiri-Yeboah, S. Akpona, A. Yonli, C. Ouedraogo, J. Simporé
Genetic polymorphisms of certain classes of glutathione S-transferase (GST), enzyme responsible for the biotransformation of drugs and xenobiotics, have been associated with risk of several cancers such as cervical cancer. The aim of this study is to investigate the impact of glutathione S-transferase M1 and T1 deletion on high-risk human papillomavirus (HR-HPV) infections and on dysplasia. A case-control study was carried out on 1069 endocervical samples from West African women including 482 HR-HPV positive and 139 patients had cervical lesions according to visual inspection with acetic acid and Lugol (VIA/VILI) screening. Deletion of the GSTM1 and GSTT1 genes was determined using conventional PCR and genotypes of HR-HPV by real-time PCR. An association with a reduced risk for HR-HPV infection was observed in Ivorian population with GSTT1-null (OR = 0.61, 95% CI = 0.40 - 0.92, p= 0.02) and GSTM1-active/GSTT1-null genotypes (OR = 0.56, 95% CI = 0.35 - 0.90, p= 0.02). In West African, women with GSTT1-null genotype had 1.72-fold higher risk for infection with HPV66 (p= 0.044) and reduced risk (OR = 0.39) for HPV35. Whereas women with GSTM1-null/GSTT1-active genotype had 2.32-fold higher risk for HPV18 infection (p= 0.042). GSTT1-null genotype was associated to cervical lesions in West African with a reduced risk (OR = 0.63, p= 0.017). The results of the present study demonstrate that GSTT1-null could be associated with cervical lesions and HPV35 infection with reduced risk. GSTM1-null associated with GSTT1-active could play a role in increasing the risk for HPV18 infection. Key words: Cervical cancer, GSTM1, GSTT1, HR-HPV, West Africa.
{"title":"Impact of glutathione S-transferase genes polymorphisms on human papillomavirus infection and precancerous lesions in West African women","authors":"T. C. Ouédraogo, F. Djigma, Boureima Idani, T. Zohoncon, P. A. Sorgho, P. Bado, M. Traore, A. Ouattara, Marius Ayaovi Setor, Shoukrat Ohuwa Toyin Bello, S. Karou, A. Horo, K. P. Kouakou, M. Gomina, M. Nayama, D. Capo‐Chichi, A. Sanni, D. Obiri-Yeboah, S. Akpona, A. Yonli, C. Ouedraogo, J. Simporé","doi":"10.5897/IJGMB2020.0197","DOIUrl":"https://doi.org/10.5897/IJGMB2020.0197","url":null,"abstract":"Genetic polymorphisms of certain classes of glutathione S-transferase (GST), enzyme responsible for the biotransformation of drugs and xenobiotics, have been associated with risk of several cancers such as cervical cancer. The aim of this study is to investigate the impact of glutathione S-transferase M1 and T1 deletion on high-risk human papillomavirus (HR-HPV) infections and on dysplasia. A case-control study was carried out on 1069 endocervical samples from West African women including 482 HR-HPV positive and 139 patients had cervical lesions according to visual inspection with acetic acid and Lugol (VIA/VILI) screening. Deletion of the GSTM1 and GSTT1 genes was determined using conventional PCR and genotypes of HR-HPV by real-time PCR. An association with a reduced risk for HR-HPV infection was observed in Ivorian population with GSTT1-null (OR = 0.61, 95% CI = 0.40 - 0.92, p= 0.02) and GSTM1-active/GSTT1-null genotypes (OR = 0.56, 95% CI = 0.35 - 0.90, p= 0.02). In West African, women with GSTT1-null genotype had 1.72-fold higher risk for infection with HPV66 (p= 0.044) and reduced risk (OR = 0.39) for HPV35. Whereas women with GSTM1-null/GSTT1-active genotype had 2.32-fold higher risk for HPV18 infection (p= 0.042). GSTT1-null genotype was associated to cervical lesions in West African with a reduced risk (OR = 0.63, p= 0.017). The results of the present study demonstrate that GSTT1-null could be associated with cervical lesions and HPV35 infection with reduced risk. GSTM1-null associated with GSTT1-active could play a role in increasing the risk for HPV18 infection. \u0000 \u0000 \u0000 \u0000 Key words: Cervical cancer, GSTM1, GSTT1, HR-HPV, West Africa.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"15 1","pages":"59-70"},"PeriodicalIF":0.0,"publicationDate":"2020-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91365689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Twenty two genotypes of J. curcas L. from Africa (Senegal, Burkina Faso, Mali, Congo and Madagascar Island), Asia (Cambodia, China and India) and America (Ecuador, Dominican Republic and Brazil) selected for their vigor and their productivity were analyzed with ten SSR primer pairs and six AFLP primer combinations. The two marker approaches showed their ability to effectively reveal polymorphism among the selected genotypes: 94.02 and 56% of polymorphism for AFLPs and SSRs respectively. Among the three groups of selected genotypes, the Asian group was the least diverse while the genetic diversities found in African and American groups were slightly comparable. The Nei’s genetic diversity (He) of all twenty-two selected genotypes was 0.2029 based on combined SSR+AFLP data. The Gst value and the AMOVA analysis indicated that more than 80% of the genetic diversity resided within the groups. The analysis of the genetic relationships between the genotypes using the Nei’s standard dissimilarity matrix gave dissimilarity coefficients ranging from 0.14397 to 0.73943 with an average of 0.3540. The most distant genotypes were found between a genotype from Africa (Congo) and one from America (Ecuador). The clustering of genotypes obtained with the neighbor-joining dendrogram and the PCoA analysis revealed the existence of a certain level of diversity that can be used by breeders. Key words: Biodiesel, genetic diversity, jatropha, molecular markers, AFLP, SSR, plant breeding.
{"title":"Genetic analysis of twenty two selected genotypes of Jatropha curcas L. (physic nut) from Africa, Asia and America, using SSR and AFLP markers","authors":"N. O. Konan, G. Mergeai","doi":"10.5897/IJGMB2020.0196","DOIUrl":"https://doi.org/10.5897/IJGMB2020.0196","url":null,"abstract":"Twenty two genotypes of J. curcas L. from Africa (Senegal, Burkina Faso, Mali, Congo and Madagascar Island), Asia (Cambodia, China and India) and America (Ecuador, Dominican Republic and Brazil) selected for their vigor and their productivity were analyzed with ten SSR primer pairs and six AFLP primer combinations. The two marker approaches showed their ability to effectively reveal polymorphism among the selected genotypes: 94.02 and 56% of polymorphism for AFLPs and SSRs respectively. Among the three groups of selected genotypes, the Asian group was the least diverse while the genetic diversities found in African and American groups were slightly comparable. The Nei’s genetic diversity (He) of all twenty-two selected genotypes was 0.2029 based on combined SSR+AFLP data. The Gst value and the AMOVA analysis indicated that more than 80% of the genetic diversity resided within the groups. The analysis of the genetic relationships between the genotypes using the Nei’s standard dissimilarity matrix gave dissimilarity coefficients ranging from 0.14397 to 0.73943 with an average of 0.3540. The most distant genotypes were found between a genotype from Africa (Congo) and one from America (Ecuador). The clustering of genotypes obtained with the neighbor-joining dendrogram and the PCoA analysis revealed the existence of a certain level of diversity that can be used by breeders. \u0000 \u0000 \u0000 \u0000 Key words: Biodiesel, genetic diversity, jatropha, molecular markers, AFLP, SSR, plant breeding.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"1 1","pages":"46-58"},"PeriodicalIF":0.0,"publicationDate":"2020-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72585681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Leitich, J. Korir, J. Muoma, A. Wangai, K. Bong, G. Johal, S. Loesch-Fries
The first report of Maize lethal necrosis (MLN) disease in Africa was in Bomet, Kenya, nine years ago. It has since spread in East and Central African (ECA) countries, causing massive yield losses. Currently, 90% of the preferred commercial maize germplasm grown by farmers in Kenya is susceptible to MLN disease. As such, the disease has continued to pose a serious challenge to food security in the ECA region. This study sought to characterize the MLN, causing viruses present in the maize leaf samples collected from the South-Rift region. Using total RNA extracted from 60 leaf samples collected from Bomet, Kericho, and Kisumu Counties, reverse transcription-polymerase chain reaction (RT-PCR) was carried out. The PCR products with the strongest bands were purified and sequenced using the Sanger sequencing technique. The results showed that samples from the three counties were positive for maize chlorotic mottle virus (MCMV) (MH645622 and MH645621) and sugarcane mosaic virus (SCMV) (MH645623, MH645624 and MH645625) and negative to wheat streak mosaic virus (WSMV). The coat protein (CP) sequences of MCMV isolates were closely related to the sequences of MCMV isolates, which had been previously reported from Eastern and Sub-Saharan Africa. For the CP sequences of SCMV isolates, only one sequence of the isolate KCO59 was similar to the sequence of a Kenyan isolate (JX286708). Sequences of isolates KCO5 and KCO24 were not identical to those of the Kenyan isolate (JX286708). Based on these results, in the surveyed counties, isolates of SCMV are genetically diverse, while those of MCMV are not. There exists a new variant of SCMV, which appears to be the main potyvirus in synergism with MCMV in causing MLN disease in Kenya. Key words: Maize lethal necrosis (MLN), maize chlorotic mottle virus (MCMV), sugarcane mosaic virus (SCMV), wheat streak mosaic virus (WSMV).
{"title":"Molecular characterization of viruses causing maize lethal necrosis disease in South-Rift region, Kenya","authors":"R. Leitich, J. Korir, J. Muoma, A. Wangai, K. Bong, G. Johal, S. Loesch-Fries","doi":"10.5897/IJGMB2020.0199","DOIUrl":"https://doi.org/10.5897/IJGMB2020.0199","url":null,"abstract":"The first report of Maize lethal necrosis (MLN) disease in Africa was in Bomet, Kenya, nine years ago. It has since spread in East and Central African (ECA) countries, causing massive yield losses. Currently, 90% of the preferred commercial maize germplasm grown by farmers in Kenya is susceptible to MLN disease. As such, the disease has continued to pose a serious challenge to food security in the ECA region. This study sought to characterize the MLN, causing viruses present in the maize leaf samples collected from the South-Rift region. Using total RNA extracted from 60 leaf samples collected from Bomet, Kericho, and Kisumu Counties, reverse transcription-polymerase chain reaction (RT-PCR) was carried out. The PCR products with the strongest bands were purified and sequenced using the Sanger sequencing technique. The results showed that samples from the three counties were positive for maize chlorotic mottle virus (MCMV) (MH645622 and MH645621) and sugarcane mosaic virus (SCMV) (MH645623, MH645624 and MH645625) and negative to wheat streak mosaic virus (WSMV). The coat protein (CP) sequences of MCMV isolates were closely related to the sequences of MCMV isolates, which had been previously reported from Eastern and Sub-Saharan Africa. For the CP sequences of SCMV isolates, only one sequence of the isolate KCO59 was similar to the sequence of a Kenyan isolate (JX286708). Sequences of isolates KCO5 and KCO24 were not identical to those of the Kenyan isolate (JX286708). Based on these results, in the surveyed counties, isolates of SCMV are genetically diverse, while those of MCMV are not. There exists a new variant of SCMV, which appears to be the main potyvirus in synergism with MCMV in causing MLN disease in Kenya. \u0000 \u0000 \u0000 \u0000 Key words: Maize lethal necrosis (MLN), maize chlorotic mottle virus (MCMV), sugarcane mosaic virus (SCMV), wheat streak mosaic virus (WSMV).","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"109 1","pages":"71-77"},"PeriodicalIF":0.0,"publicationDate":"2020-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79192112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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