In Ethiopia, tef is one of the most significant crops that are grown extensively as a staple cereal crop. The evaluation of genetic variability in crop species is one of the key activities in plant breeding, which supports in the creation of breeding strategies to meet a diversify objectives. A field experiment was therefore conducted to determine genetic variability, heritability, and genetic advanced for yield and yield-related traits of tef genotypes. The experiment was laid out in 7x7 simple lattice designs at two locations (Bishoftu and Akaki) in central Ethiopia during the 2021/22 main cropping season. For the majority of the parameters, the combined analysis of variance over locations revealed significance differences in location, genotype, and genotype x location interactions. The genotypic coefficient of variation (GCV) ranged from 2.96% for the number of primary panicle branches per main shoot to 15.82% for days to physiological maturity, while the phenotypic coefficients of variation (PCV) ranged from 3.62% for days to physiological maturity to 18.42% for the number of primary panicle branches per main shoot. Genetic advanced as a percentage of mean ranges from 2.43% (number of total tillers per plant) to 28.03% (number of primary panicle branches per main shoot) and heritability in the broadest sense ranges from 14% (number of total tillers per plant) to 88.67% (day to heading), respectively. High heritability coupled with high genetic advance as percentage of mean was recorded for the number of spikelets per panicle, number of primary panicle branches per main shoot and panicle length. Generally, the variation observed among the tested genotypes confirmed the possibility of improving tef genotypes for better yield through selection and hybridization.
{"title":"Genetic variability, heritability and genetic advance among yield and yield related traits of advanced Tef [Eragrostis tef (Zucc.) Trotter] breeding lines","authors":"Ashe Girma, Chanyalew Solomon, Tesso Bulti","doi":"10.5897/ijgmb2023.0226","DOIUrl":"https://doi.org/10.5897/ijgmb2023.0226","url":null,"abstract":"In Ethiopia, tef is one of the most significant crops that are grown extensively as a staple cereal crop. The evaluation of genetic variability in crop species is one of the key activities in plant breeding, which supports in the creation of breeding strategies to meet a diversify objectives. A field experiment was therefore conducted to determine genetic variability, heritability, and genetic advanced for yield and yield-related traits of tef genotypes. The experiment was laid out in 7x7 simple lattice designs at two locations (Bishoftu and Akaki) in central Ethiopia during the 2021/22 main cropping season. For the majority of the parameters, the combined analysis of variance over locations revealed significance differences in location, genotype, and genotype x location interactions. The genotypic coefficient of variation (GCV) ranged from 2.96% for the number of primary panicle branches per main shoot to 15.82% for days to physiological maturity, while the phenotypic coefficients of variation (PCV) ranged from 3.62% for days to physiological maturity to 18.42% for the number of primary panicle branches per main shoot. Genetic advanced as a percentage of mean ranges from 2.43% (number of total tillers per plant) to 28.03% (number of primary panicle branches per main shoot) and heritability in the broadest sense ranges from 14% (number of total tillers per plant) to 88.67% (day to heading), respectively. High heritability coupled with high genetic advance as percentage of mean was recorded for the number of spikelets per panicle, number of primary panicle branches per main shoot and panicle length. Generally, the variation observed among the tested genotypes confirmed the possibility of improving tef genotypes for better yield through selection and hybridization.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"112 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134495","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}
Ndaitavela Shivute Fimanekeni, Kamara Nabieu, Liu Xiang-Dong
Autotetraploid rice is a new germplasm developed through diploid chromosome doubling. Hybrids developed by indica autotetraploid rice crossed by japonica autotetraploid rice has clear biological advantage on F1, causing widespread concerns for special research evolution to evaluate and utilize F1 hybrid vigor. However, the widespread fertility of F1 indica and japonica autotetraploid rice is low, which makes it difficult to direct utilization of F1 vigor. In diploid indica and japonica rice, the fertility of F1 hybrids is also proved to be low. Embryo sac infertility is known to be one of the most important reasons for hybrid sterility and many studies has indicated that the primary cause of F1 sterility was abortion of the embryo sac, which was identified by the genotype of the S5 gene on the chromosome. Previous studies have cloned S5 based on common wild rice and cultivated rice and S5 sequence was obtained and studied. In this paper, typical sequence of different materials of S5 japonica and indica rice group of autotetraploid hybrids observed with whole-mount eosin B-staining confocal laser scanning microscopy WE-CLSM was utilized, to overcome F1 hybrids embryo sac sterility. Key words: rice (Oryza sativa L.); autotetraploid; hybrid sterility; S5 gene; embryo sac fertility.
{"title":"Sequencing of S5 gene in autotetraploid rice japonica and indica to overcome F1 hybrids embryo sac sterility","authors":"Ndaitavela Shivute Fimanekeni, Kamara Nabieu, Liu Xiang-Dong","doi":"10.5897/ijgmb2021.0211","DOIUrl":"https://doi.org/10.5897/ijgmb2021.0211","url":null,"abstract":"Autotetraploid rice is a new germplasm developed through diploid chromosome doubling. Hybrids developed by indica autotetraploid rice crossed by japonica autotetraploid rice has clear biological advantage on F1, causing widespread concerns for special research evolution to evaluate and utilize F1 hybrid vigor. However, the widespread fertility of F1 indica and japonica autotetraploid rice is low, which makes it difficult to direct utilization of F1 vigor. In diploid indica and japonica rice, the fertility of F1 hybrids is also proved to be low. Embryo sac infertility is known to be one of the most important reasons for hybrid sterility and many studies has indicated that the primary cause of F1 sterility was abortion of the embryo sac, which was identified by the genotype of the S5 gene on the chromosome. Previous studies have cloned S5 based on common wild rice and cultivated rice and S5 sequence was obtained and studied. In this paper, typical sequence of different materials of S5 japonica and indica rice group of autotetraploid hybrids observed with whole-mount eosin B-staining confocal laser scanning microscopy WE-CLSM was utilized, to overcome F1 hybrids embryo sac sterility. Key words: rice (Oryza sativa L.); autotetraploid; hybrid sterility; S5 gene; embryo sac fertility.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135315245","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}
F. D. Gueye, Fatimatou Dia, Arame Ndiaye, Adji Dieynaba Diallo, M. V. Gueye, N. Diop, M. Diallo, Oumar Faye
Disorders of sex development (DSD) when diagnosed early is important as it pose a real public health problem in Senegal. Among the supporting tools, molecular ones, which are not available everywhere are very useful. In this context, cytogenetic and molecular analyses were implemented in cytology laboratory at the Aristide Le Dantec hospital to enhance the DSDs diagnosis as well as evaluate the impact of the parents' age on such abnormalities. 55 cases of DSD have been received in the cytology laboratory for which cytogenetic (Barr chromatin and GTG karyotype) and molecular (SRY gene research) techniques have been used to characterize these anomalies according to the standards described in the international nomenclature. Three categories of DSD were found, namely 46,XX DSD, 46,XY DSD and chromosomal DSD. SRY is present in 4 patients 46,XX and absent in 3 patients 46,XY and results showed that the diagnosis is made earlier than previously (about 07 years). The study thus suggests the importance of complementarity (cytogenetics and molecular biology) in the diagnosis of DSD but also and especially the importance of early diagnosis from birth. Analysis of the epidemiological data also showed a slight correlation between maternal age and DSD. This showed us that a better characterization of DSD via increasingly powerful tools helps understanding on such pathologies and allows good medical care for patients.
早期诊断性发育障碍很重要，因为它在塞内加尔构成了一个真正的公共卫生问题。在辅助工具中，并非随处可见的分子工具非常有用。在这种情况下，在Aristide Le Dantec医院的细胞学实验室进行了细胞遗传学和分子分析，以提高dsd的诊断，并评估父母年龄对这种异常的影响。细胞学实验室已收到55例DSD病例，细胞遗传学(Barr染色质和GTG核型)和分子(SRY基因研究)技术已根据国际命名法中描述的标准对这些异常进行了表征。DSD分为46型、XX型、46型、XY型和染色体型。4例患者(46,XX)存在SRY, 3例患者(46,XY)不存在SRY，结果显示诊断较既往早(约07年)。因此，该研究表明互补性(细胞遗传学和分子生物学)在DSD诊断中的重要性，尤其是从出生开始早期诊断的重要性。流行病学资料分析也显示产妇年龄与DSD有轻微的相关性。这表明，通过越来越强大的工具更好地表征DSD有助于理解这些病理，并为患者提供良好的医疗护理。
{"title":"Contribution of cytogenetic and molecular biology in disorders of sex development diagnosis: About 55 cases","authors":"F. D. Gueye, Fatimatou Dia, Arame Ndiaye, Adji Dieynaba Diallo, M. V. Gueye, N. Diop, M. Diallo, Oumar Faye","doi":"10.5897/ijgmb2022.0223","DOIUrl":"https://doi.org/10.5897/ijgmb2022.0223","url":null,"abstract":"Disorders of sex development (DSD) when diagnosed early is important as it pose a real public health problem in Senegal. Among the supporting tools, molecular ones, which are not available everywhere are very useful. In this context, cytogenetic and molecular analyses were implemented in cytology laboratory at the Aristide Le Dantec hospital to enhance the DSDs diagnosis as well as evaluate the impact of the parents' age on such abnormalities. 55 cases of DSD have been received in the cytology laboratory for which cytogenetic (Barr chromatin and GTG karyotype) and molecular (SRY gene research) techniques have been used to characterize these anomalies according to the standards described in the international nomenclature. Three categories of DSD were found, namely 46,XX DSD, 46,XY DSD and chromosomal DSD. SRY is present in 4 patients 46,XX and absent in 3 patients 46,XY and results showed that the diagnosis is made earlier than previously (about 07 years). The study thus suggests the importance of complementarity (cytogenetics and molecular biology) in the diagnosis of DSD but also and especially the importance of early diagnosis from birth. Analysis of the epidemiological data also showed a slight correlation between maternal age and DSD. This showed us that a better characterization of DSD via increasingly powerful tools helps understanding on such pathologies and allows good medical care for patients.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45762913","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}
Cassava ( Manihot esculenta Crantz) is an important crop that constitutes staple food and income for 800 million people worldwide. Cassava yield in Côte d'Ivoire is reduced due to a variety of factors, including cassava mosaic disease. Despite the impact of the pathogen Cassava Mosaic Virus (CMV) on production, genetic diversity of this virus is rarely studied in Côte d'Ivoire. This study aims to assess the molecular variability of CMV occurring in three of large cassava production area of Côte d’Ivoire. Symptomatic and asymptomatic cassava leaves were collected for genomic DNA extraction and molecular identification was performed by polymerase chain reaction (PCR). Amplified DNA was sequenced and analyzed in silico . 68% of infections were identified as African Cassava Mosaic Virus strains. Sequences alignment to Genbank sequences showed high similarity with sequences of virus from Côte d’Ivoire, Ghana, Kenya, Cameroun, Madagascar, and Nigeria. The virus's rapid evolution was demonstrated by a high mutation rate at the protein level. A phylogenetic analysis also revealed seven new genotypes of ACMV strain. This result reflects a progressive genetic evolution of the virus strains, which could impact negatively on cassava crop in Côte d'Ivoire. This study proposed selecting resistant traditional cassava genotypes to control virus spread.
{"title":"In silico analysis of mutations associated with genetic variability of the strain African cassava mosaic virus (ACMV) in three departments of Cte dIvoire","authors":"Dominique Yao Flora, Allepo Abe Innocent, Kassi N’Djetchi Martial, Kouadio Yéboué Félix, Abla Sokouri Edwige, Barkissa Traoré Mélika, Konan Konan Thomas, Sanogo Tidou Abiba, N’Goran Koffi Mathurin","doi":"10.5897/ijgmb2022.0215","DOIUrl":"https://doi.org/10.5897/ijgmb2022.0215","url":null,"abstract":"Cassava ( Manihot esculenta Crantz) is an important crop that constitutes staple food and income for 800 million people worldwide. Cassava yield in Côte d'Ivoire is reduced due to a variety of factors, including cassava mosaic disease. Despite the impact of the pathogen Cassava Mosaic Virus (CMV) on production, genetic diversity of this virus is rarely studied in Côte d'Ivoire. This study aims to assess the molecular variability of CMV occurring in three of large cassava production area of Côte d’Ivoire. Symptomatic and asymptomatic cassava leaves were collected for genomic DNA extraction and molecular identification was performed by polymerase chain reaction (PCR). Amplified DNA was sequenced and analyzed in silico . 68% of infections were identified as African Cassava Mosaic Virus strains. Sequences alignment to Genbank sequences showed high similarity with sequences of virus from Côte d’Ivoire, Ghana, Kenya, Cameroun, Madagascar, and Nigeria. The virus's rapid evolution was demonstrated by a high mutation rate at the protein level. A phylogenetic analysis also revealed seven new genotypes of ACMV strain. This result reflects a progressive genetic evolution of the virus strains, which could impact negatively on cassava crop in Côte d'Ivoire. This study proposed selecting resistant traditional cassava genotypes to control virus spread.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45604656","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 : 2021-04-16DOI: 10.11648/J.IJGG.20210901.13
B. Fuks, A. B. Konstantinov
In this review the authors address the issues related to the evolution of human. A human differs from all other species in that she acts according to a plan, or an idea she has chosen. The discovery of HAR (human accelerated region) showed that evolutionarily new regulatory regions play an important role in the functioning and development of the human brain. In Homo sapiens, conserved sequences in this area underwent numerous single nucleotide substitutions. In the five selected HARs, substitution rates were 26 times higher than those for chimpanzees showing 63 extremely fast-paced regions for H. sapiens. Human genes that regulate the development of the nervous system during evolution underwent positive selection mainly within their non-coding sequences. 92% of the detected HARs are located in intergenic regions and introns and therefore are regulatory sequences, such as enhancers. Only 2% of our genome consists of genes encoding a protein, and the remaining 98% encode regulatory elements that control gene expression in different tissues. Eukaryotic genomes contain thousands to millions of copies of transportable elements (TE). Authors believe that evolution is driven by the dynamics of transposons (TEs) and natural selection. Population studies have found thousands of individual TE insertions in the form of common genetic variants, i.e., TE polymorphisms. Active human TE families include Alu, L1, and SVA elements. These active families of human TE are retrotransposons. Analysis of human polyTE genotypes shows that patterns of TE polymorphism repeat the pattern of human evolution and migration over the past 60,000-100,000 years. They are involved in changes in human regulatory genes. The similarity of patterns allows one to see the effect of TE on regulatory structures that create the structure of the human body, using encoded structures. This conclusion is consistent with studies of intelligence genes, which are based on SNP associations with IQ, as well as with the foundations of a structural and functional network. High proportion of positive selection of genetic variants of our species for the last 6 million years and soft sweeps may explain the accelerated evolution of H. sapiens. The acceleration of gene variability in HAR occurred in parallel with an increase in the activity of the prehuman aimed at the expedient creation of a local environment with neutral mutant genes, expressed in soft sweeps. Humanity itself creates its own present and future biological evolution.
{"title":"Accelerated Variability of Human Genes and Transportable Elements; Genesis of Network","authors":"B. Fuks, A. B. Konstantinov","doi":"10.11648/J.IJGG.20210901.13","DOIUrl":"https://doi.org/10.11648/J.IJGG.20210901.13","url":null,"abstract":"In this review the authors address the issues related to the evolution of human. A human differs from all other species in that she acts according to a plan, or an idea she has chosen. The discovery of HAR (human accelerated region) showed that evolutionarily new regulatory regions play an important role in the functioning and development of the human brain. In Homo sapiens, conserved sequences in this area underwent numerous single nucleotide substitutions. In the five selected HARs, substitution rates were 26 times higher than those for chimpanzees showing 63 extremely fast-paced regions for H. sapiens. Human genes that regulate the development of the nervous system during evolution underwent positive selection mainly within their non-coding sequences. 92% of the detected HARs are located in intergenic regions and introns and therefore are regulatory sequences, such as enhancers. Only 2% of our genome consists of genes encoding a protein, and the remaining 98% encode regulatory elements that control gene expression in different tissues. Eukaryotic genomes contain thousands to millions of copies of transportable elements (TE). Authors believe that evolution is driven by the dynamics of transposons (TEs) and natural selection. Population studies have found thousands of individual TE insertions in the form of common genetic variants, i.e., TE polymorphisms. Active human TE families include Alu, L1, and SVA elements. These active families of human TE are retrotransposons. Analysis of human polyTE genotypes shows that patterns of TE polymorphism repeat the pattern of human evolution and migration over the past 60,000-100,000 years. They are involved in changes in human regulatory genes. The similarity of patterns allows one to see the effect of TE on regulatory structures that create the structure of the human body, using encoded structures. This conclusion is consistent with studies of intelligence genes, which are based on SNP associations with IQ, as well as with the foundations of a structural and functional network. High proportion of positive selection of genetic variants of our species for the last 6 million years and soft sweeps may explain the accelerated evolution of H. sapiens. The acceleration of gene variability in HAR occurred in parallel with an increase in the activity of the prehuman aimed at the expedient creation of a local environment with neutral mutant genes, expressed in soft sweeps. Humanity itself creates its own present and future biological evolution.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"39 1","pages":"20"},"PeriodicalIF":0.0,"publicationDate":"2021-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79878047","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 : 2021-04-16DOI: 10.11648/J.IJGG.20210901.12
Hameed Khan
This abstract describes the development of novel food and drug based on the genetic make-up individuals and their diseases. It also describes how sequencing of human genome help us design the most nutritious food for the burgeoning population of world. Regardless of race, religions or place of origin, sooner or later we all have to become vegetarians. Non-vegetarians eat meat because it contains, out of 20, eight essential amino acids in concentrated form. Genome sequencing have already identified all the essential amino acid Codons which could be spliced in the Rice, Corn or Wheat genomes. Genetic tools are now available to splice essential amino acids Codons into Rice Genome. Using the genetic tools, we have successfully spliced Beta Carotene gene into the Rice Genome to produce Golden Rice. Upon ingestion of the Golden Rice, Beta Carotene is converted to Vitamin A which prevents blindness in children. Based on the genetic make-up of the host cells, we will cut, paste and copy important genes to develop new food, new fuel, and new medicine to treat every disease known to mankind. Our future lies in Space. By 2024, we plan to land men on Mars. The inhabitants of Mars will grow genetically modified plants only. We will also discuss ethical issues based on the unintended consequences of genetic modification of our food and medicine.
{"title":"The Impact of Sequencing Human Genome on Genomic Food & Medicine","authors":"Hameed Khan","doi":"10.11648/J.IJGG.20210901.12","DOIUrl":"https://doi.org/10.11648/J.IJGG.20210901.12","url":null,"abstract":"This abstract describes the development of novel food and drug based on the genetic make-up individuals and their diseases. It also describes how sequencing of human genome help us design the most nutritious food for the burgeoning population of world. Regardless of race, religions or place of origin, sooner or later we all have to become vegetarians. Non-vegetarians eat meat because it contains, out of 20, eight essential amino acids in concentrated form. Genome sequencing have already identified all the essential amino acid Codons which could be spliced in the Rice, Corn or Wheat genomes. Genetic tools are now available to splice essential amino acids Codons into Rice Genome. Using the genetic tools, we have successfully spliced Beta Carotene gene into the Rice Genome to produce Golden Rice. Upon ingestion of the Golden Rice, Beta Carotene is converted to Vitamin A which prevents blindness in children. Based on the genetic make-up of the host cells, we will cut, paste and copy important genes to develop new food, new fuel, and new medicine to treat every disease known to mankind. Our future lies in Space. By 2024, we plan to land men on Mars. The inhabitants of Mars will grow genetically modified plants only. We will also discuss ethical issues based on the unintended consequences of genetic modification of our food and medicine.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"18 1","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2021-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73454660","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}
Poachers and bushmeat traders most of the time modify the wildlife materials before commercialization. Therefore, the morphological identification of species is no longer possible. However, accurate identification of the sale wildlife materials is essential for species identification, quantification and better conservation management. The aim of this study is to take advantages of specific gene sequences and in silico analysis to identify smoked and decapitated wildlife materials encountered on bushmeat markets and traditional restaurants in Center-Western Cote d’Ivoire. DNA from 352 bushmeat samples comprising 123 decapitated and smoked specimens was extracted, amplified by polymerase chain reaction (PCR) using the Cytb and COI primers and analyzed in silico. Up to 98.37% of the DNA from smoked bushmeat was successfully amplified. Assignment of Cytb and COI query sequences with reference sequences in the NCBI Genbank allowed to correct three misidentifications by traders. Thus, specimens identified as Heliosciurus sp, Phacochoerus aethiopicus africanus and Dendrohyrax dorsalis sylvestris by traders were assigned to Funisciurus sp, Tragelaphus scriptus, Crossarchus obscurus with 84.94, 100, 98.76% similarity respectively. Morphologically unidentifiable sample coded IP3CS1O was assigned to species Eidolon helvum with 99.53% similarity. The study shows the interest of DNA-based identification of bushmeat to circumvent misidentification for better management of wildlife biodiversity. Key words: smoked bushmeat, misidentification, genetic typing, in silico analysis, identification, biodiversity, wildlife conservation.
Allepo Abe Innocent, Koffi Mathurin, D. Paulin, K. Thomas, Y. William, A. Sanogo, N. Simon-Pierre
Escherichia coli and Klebsiella pneumoniae are pathogens frequently involved in urinary tract infections with high epidemic potential. The increase and spread resistance of these microbes to broad spectrum beta-lactam antibiotics are usually reported and is a real public health concern in Cote d’Ivoire but information on genetic variants and intragenic mutations encoding these resistances are scarce. The aim of this study is to characterize genetic variants and describe the intragenic mutations underlying resistance to broad-spectrum beta-lactam antibiotics in uropathogen E. coli and K. pneumoniae in HKB and CHR hospitals with different epidemiological facies in Cote d’Ivoire. 39 strains comprising 30 of E. coli and 9 strains of K. pneumoniae were isolated from which DNA was extracted, amplified and sequenced. ESBLs genes were detected by polymerase chain reaction in 58.8 % of strain analysis. No significant difference was observed between ESBL from HKB and CHR hospitals although HKB and CHR sites present 50 and 56.8% of ESBL respectively. Nucleotide sequences subjected to BLASTn for sequences similarity and homology revealed diversity of resistance genes with dominance of the gene encoding the extended-spectrum β-lactamase CTX-M-15 and the emergence of a new blaTEM-9 gene in Cote d'Ivoire. The significant co-expression of ESBLs might impact 3rd generation cephalosporin multi-resistance among pathogenic bacteria infecting patient population. Routine antibiogram practice could guide the choice of optimal antibiotic therapy for successful treatment and delay the occurrence of multidrug resistance in enterobacterial infections. Key words: Urinary tract infection, extended-spectrum β-lactamase, gene variants, mutations, antibiotic resistance, Cote d’Ivoire.
{"title":"Molecular characterization and in silico analysis of mutations associated with extended-spectrum beta-lactamase resistance in uropathogenic Escherichia coli and Klebisiella pneumoniae in two hospitals, Cte dIvoire","authors":"Allepo Abe Innocent, Koffi Mathurin, D. Paulin, K. Thomas, Y. William, A. Sanogo, N. Simon-Pierre","doi":"10.5897/IJGMB2020.0207","DOIUrl":"https://doi.org/10.5897/IJGMB2020.0207","url":null,"abstract":"Escherichia coli and Klebsiella pneumoniae are pathogens frequently involved in urinary tract infections with high epidemic potential. The increase and spread resistance of these microbes to broad spectrum beta-lactam antibiotics are usually reported and is a real public health concern in Cote d’Ivoire but information on genetic variants and intragenic mutations encoding these resistances are scarce. The aim of this study is to characterize genetic variants and describe the intragenic mutations underlying resistance to broad-spectrum beta-lactam antibiotics in uropathogen E. coli and K. pneumoniae in HKB and CHR hospitals with different epidemiological facies in Cote d’Ivoire. 39 strains comprising 30 of E. coli and 9 strains of K. pneumoniae were isolated from which DNA was extracted, amplified and sequenced. ESBLs genes were detected by polymerase chain reaction in 58.8 % of strain analysis. No significant difference was observed between ESBL from HKB and CHR hospitals although HKB and CHR sites present 50 and 56.8% of ESBL respectively. Nucleotide sequences subjected to BLASTn for sequences similarity and homology revealed diversity of resistance genes with dominance of the gene encoding the extended-spectrum β-lactamase CTX-M-15 and the emergence of a new blaTEM-9 gene in Cote d'Ivoire. The significant co-expression of ESBLs might impact 3rd generation cephalosporin multi-resistance among pathogenic bacteria infecting patient population. Routine antibiogram practice could guide the choice of optimal antibiotic therapy for successful treatment and delay the occurrence of multidrug resistance in enterobacterial infections. \u0000 \u0000 Key words: Urinary tract infection, extended-spectrum β-lactamase, gene variants, mutations, antibiotic resistance, Cote d’Ivoire.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48708376","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}
The ABO and Rh (D) blood type distributions vary from one ethnic group to another. However, they play an essential part in population genetics studies, blood transfusion practices and certain medico-legal cases. Thus, this study is aimed to assess ABO and Rh (D) blood group distribution patterns among Natural and Computational Science faculty graduating class students in Woldia University and to document a blood group database and creating awareness among blood donors for safe transfusion. To this end, blood samples from 429 (N=560) volunteer students were taken during the period of 1st February 2020 to 28th April 2020 blood donation campaign and observational cross sectional study design was performed. ABO and Rh (D) typing was done by antigen-antibody agglutination test using commercially available and standard anti-sera. Descriptive statistical measures on phenotypic frequency of ABO and Rh (D) blood types were described in simple percentages. The allelic and genotypic frequencies of the ABO and Rh blood groups were estimated using the assumption of Hardy–Weinberg equilibrium. The ABO and Rh (D) blood phenotypes respectively were found to be A (28.20%) > B (25.40%) > AB (24.70%) > O (21.67%) and Rh+ (60.13%) > Rh- (39.86%) and the combined ABO/Rh(D) blood groups were in the order A+ (16.31%) > B+ (15.85%) > O+ (14.21%) > AB+ (13.75%) and A- (11.88%) >AB- (10.95%) > B- (9.55%) > O- (7.45%). The allelic frequencies of IA (P), IB (q), IO(r) respectively were 0.314, 0.2939 and 0.4655. The allelic frequencies for ID = 0.3687 and for Id = 0.6313 were found. A genotypic frequency of IAIO was the most frequent (0.2923) and IBIB was the least frequent (0.0863). Whereas, IDId was most frequent (0.4655) and IDID was the least frequent (0.1359). The observed and expected frequencies of individuals having ABO blood group showed no significant difference (χ2 = 35.4381, df = 3; P < 0.05) and Rh (D) blood phenotypes of individuals were significantly different (χ2 = 0.000011, df = 1; P < 0.05), thus, not fitting Hardy-Weinberg assumptions. The data obtained in the present study could be used as important input for blood bank services to have better blood management and safe blood transfusion practices in different regions of Ethiopia and abroad in the future. Key words: ABO, allele, blood donors, blood groups, distribution, genotype, Rh (D), Woldia University.
{"title":"ABO and Rh (D) blood group distribution among blood donors: A Study of Natural and Computational Science Faculty graduating class students at Woldia University, Ethiopia","authors":"Silamlak Birhanu Abegaz","doi":"10.5897/IJGMB2020.0203","DOIUrl":"https://doi.org/10.5897/IJGMB2020.0203","url":null,"abstract":"The ABO and Rh (D) blood type distributions vary from one ethnic group to another. However, they play an essential part in population genetics studies, blood transfusion practices and certain medico-legal cases. Thus, this study is aimed to assess ABO and Rh (D) blood group distribution patterns among Natural and Computational Science faculty graduating class students in Woldia University and to document a blood group database and creating awareness among blood donors for safe transfusion. To this end, blood samples from 429 (N=560) volunteer students were taken during the period of 1st February 2020 to 28th April 2020 blood donation campaign and observational cross sectional study design was performed. ABO and Rh (D) typing was done by antigen-antibody agglutination test using commercially available and standard anti-sera. Descriptive statistical measures on phenotypic frequency of ABO and Rh (D) blood types were described in simple percentages. The allelic and genotypic frequencies of the ABO and Rh blood groups were estimated using the assumption of Hardy–Weinberg equilibrium. The ABO and Rh (D) blood phenotypes respectively were found to be A (28.20%) > B (25.40%) > AB (24.70%) > O (21.67%) and Rh+ (60.13%) > Rh- (39.86%) and the combined ABO/Rh(D) blood groups were in the order A+ (16.31%) > B+ (15.85%) > O+ (14.21%) > AB+ (13.75%) and A- (11.88%) >AB- (10.95%) > B- (9.55%) > O- (7.45%). The allelic frequencies of IA (P), IB (q), IO(r) respectively were 0.314, 0.2939 and 0.4655. The allelic frequencies for ID = 0.3687 and for Id = 0.6313 were found. A genotypic frequency of IAIO was the most frequent (0.2923) and IBIB was the least frequent (0.0863). Whereas, IDId was most frequent (0.4655) and IDID was the least frequent (0.1359). The observed and expected frequencies of individuals having ABO blood group showed no significant difference (χ2 = 35.4381, df = 3; P < 0.05) and Rh (D) blood phenotypes of individuals were significantly different (χ2 = 0.000011, df = 1; P < 0.05), thus, not fitting Hardy-Weinberg assumptions. The data obtained in the present study could be used as important input for blood bank services to have better blood management and safe blood transfusion practices in different regions of Ethiopia and abroad in the future. \u0000 \u0000 \u0000 \u0000 Key words: ABO, allele, blood donors, blood groups, distribution, genotype, Rh (D), Woldia University.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43944472","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 : 2021-01-12DOI: 10.11648/J.IJGG.20210901.11
I. G. A. D. Aryani, I. Arimbawa, M. Kardana, Ni Nyoman Ayu Dewi, Pande Anandasari
Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination, radiologic studies, histopathology and molecular analysis. Thanatophoric dysplasia is subdivided in two dinstinct phenotypes: 1) Thanatophoric dysplasia type 1 (TD1) is characterized by curved ‘‘telephone receiver’’ femora and mild craniosynostosis or 2) Thanatophoric dysplasia type 2 (TD2) includes straight femora and cloverleaf skull. Girl baby was born from 44 years old female with 35th weeks of gestation (WOG) with non-consanguineous marriage. The patient looked lethargic accompanied with rapid breathing with chest indrawing. On examination the patient looked dysmorphic, large head with frontal bossing without clover leaf skull, upper and lower limbs were extremely short. Babygram showed head was large, thoracic cavity was small and narrow, the ribs were short, and “telephone receiver” like curved femora was noted. Mutational analysis confirmed a heterozygous allele p.Tyr373Cys mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. The patient was diagnosed with TD1. The general condition and respiratory distress did not improve and the patient was died on the sixteenth days of hospitalization. Thanatophoric dysplasia type 1 was rare disease and lethal case. The diagnosis based on clinical examination, radiologic studies, histopathology and molecular analysis. Lethality in thanatophoric dysplasia is caused mainly by respiratory distress due to a narrow thorax.
骨性发育不良(TD)是最常见的散发性致死性骨骼发育不良，发病率约为1 / 17000 - 50000例新生儿。TD的诊断可以在产前通过超声和出生后立即根据临床检查，放射学研究，组织病理学和分子分析。thanatoporic dysplasia可细分为两种缺失表型:1)thanatoporic dysplasia type 1 (TD1)以弯曲的“电话听筒”股骨和轻度颅缝闭锁为特征;2)thanatoporic dysplasia type 2 (TD2)包括直股骨和三叶草颅骨。女婴为44岁女性，妊娠35周(WOG)，非近亲婚姻。患者面色昏睡，呼吸急促，胸部内缩。检查时，患者外观畸形，头大，额凸，无三叶草头骨，上肢和下肢极短。婴儿图显示头部大，胸腔小而窄，肋骨短，股骨呈“电话听筒”状弯曲。突变分析证实了成纤维细胞生长因子受体3 (FGFR3)基因的杂合等位基因p.Tyr373Cys突变。患者被诊断为TD1。患者一般情况及呼吸窘迫无改善，于住院第16天死亡。1型嗜盐性发育不良是一种罕见且致命的疾病。诊断依据临床检查、放射学检查、组织病理学和分子分析。致死率主要是由狭窄胸腔引起的呼吸窘迫引起的。
{"title":"A Rare Case: Genetically Confirmed Newborn with Thanatophoric Dysplasia Type 1 (TD1)","authors":"I. G. A. D. Aryani, I. Arimbawa, M. Kardana, Ni Nyoman Ayu Dewi, Pande Anandasari","doi":"10.11648/J.IJGG.20210901.11","DOIUrl":"https://doi.org/10.11648/J.IJGG.20210901.11","url":null,"abstract":"Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination, radiologic studies, histopathology and molecular analysis. Thanatophoric dysplasia is subdivided in two dinstinct phenotypes: 1) Thanatophoric dysplasia type 1 (TD1) is characterized by curved ‘‘telephone receiver’’ femora and mild craniosynostosis or 2) Thanatophoric dysplasia type 2 (TD2) includes straight femora and cloverleaf skull. Girl baby was born from 44 years old female with 35th weeks of gestation (WOG) with non-consanguineous marriage. The patient looked lethargic accompanied with rapid breathing with chest indrawing. On examination the patient looked dysmorphic, large head with frontal bossing without clover leaf skull, upper and lower limbs were extremely short. Babygram showed head was large, thoracic cavity was small and narrow, the ribs were short, and “telephone receiver” like curved femora was noted. Mutational analysis confirmed a heterozygous allele p.Tyr373Cys mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. The patient was diagnosed with TD1. The general condition and respiratory distress did not improve and the patient was died on the sixteenth days of hospitalization. Thanatophoric dysplasia type 1 was rare disease and lethal case. The diagnosis based on clinical examination, radiologic studies, histopathology and molecular analysis. Lethality in thanatophoric dysplasia is caused mainly by respiratory distress due to a narrow thorax.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"40 1","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2021-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73446571","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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