Pub Date : 2017-06-01DOI: 10.11648/J.IJGG.20170502.11
Nigusu Girma, Yohannes Petros
The ABO and Rh blood groups are the most important blood groups despite the long list of several other blood groups discovered so far. The ABO and Rh blood groups varies worldwide and are not found in equal numbers even among ethnic groups. Therefore, this study aimed at having information on the frequencies of alleles, phenotypes and genotypes of ABO and Rh D blood groups among the major ethnic groups of Robe Secondary and Preparatory and Zebela Primary school students in Oromia region, Bale zone, Robe town. A total of 600 students were purposively selected and divided into 3 major ethnic groups i.e., Oromo, Amahara, and Wolayita, each consists of 200 students. Purposively sampled students were obtained on the basis of their willingness to participate by filling all their profile and signed on the consent agreement format. Differences in allelic, phenotypic and genotypic frequencies of the (ABO) and Rh D blood groups among the three ethnic groups of the students were observed. Blood group O and Rh (D) positive has highest allelic and phenotypic frequencies while blood group AB and Rh (D) negative has the lowest allelic and phenotypic frequencies in all the three ethnic groups. However, apart from the importance of ABO and Rh blood groups in blood transfusion practice, it is therefore imperative to have information on the distribution of these blood groups in any population group that comprise different ethnic groups.
{"title":"Frequency of ABO, Rh Blood Group Alleles Among Oromo, Amhara and Wolayita Ethnic Group Students in Robe Secondary, Preparatory and Zeybela Primary School, Bale, Ethiopia","authors":"Nigusu Girma, Yohannes Petros","doi":"10.11648/J.IJGG.20170502.11","DOIUrl":"https://doi.org/10.11648/J.IJGG.20170502.11","url":null,"abstract":"The ABO and Rh blood groups are the most important blood groups despite the long list of several other blood groups discovered so far. The ABO and Rh blood groups varies worldwide and are not found in equal numbers even among ethnic groups. Therefore, this study aimed at having information on the frequencies of alleles, phenotypes and genotypes of ABO and Rh D blood groups among the major ethnic groups of Robe Secondary and Preparatory and Zebela Primary school students in Oromia region, Bale zone, Robe town. A total of 600 students were purposively selected and divided into 3 major ethnic groups i.e., Oromo, Amahara, and Wolayita, each consists of 200 students. Purposively sampled students were obtained on the basis of their willingness to participate by filling all their profile and signed on the consent agreement format. Differences in allelic, phenotypic and genotypic frequencies of the (ABO) and Rh D blood groups among the three ethnic groups of the students were observed. Blood group O and Rh (D) positive has highest allelic and phenotypic frequencies while blood group AB and Rh (D) negative has the lowest allelic and phenotypic frequencies in all the three ethnic groups. However, apart from the importance of ABO and Rh blood groups in blood transfusion practice, it is therefore imperative to have information on the distribution of these blood groups in any population group that comprise different ethnic groups.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"9 1","pages":"19"},"PeriodicalIF":0.0,"publicationDate":"2017-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88441310","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}
A. Mutery, Wala Kamal, Hawraa Abduljalil Hussein Al Bloushi, Mary Sebastian Manjuran, Naushad Rais
Vesicular monoamine transporters (VMATs) are an important target for biological research in neuropsychiatric disorders. Recent studies indicated that VMAT1 is expressed in the brain, thus making transporter plausible candidate genes for neuropsychiatric disorders. Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia. Until now, there are no reports of VMAT 1 allele frequencies in Emirati population. Hence, the aim of the present work was to study VMAT1 genetic polymorphism in Healthy Emirati population. Saliva samples were collected from 248 healthy Emiratis and genotyping was done for rs2270641 by PCR-RFLP, and rs2270637 and rs1390938 by Taqman assay. The minor allele frequencies of rs2270641, rs2270637 and rs1390938 were 0.48, 0.20 and 0.18, respectively, which were compared with that of available HapMap population data. In conclusion, the present study is first of its kind in Emirati population that established the allele and genotype frequency for various VMAT1 alleles which can be exploited to design future studies on the genetic association of neuropsychiatry disorders. Key words: Neuropsychiatry disorders, bipolar, monoamine, vesicular monoamine transporters, vesicular monoamine transporter (VMATs).
{"title":"Genetic polymorphism of vesicular monoamine transporter 1 gene (SLC18A1) in Emirati population","authors":"A. Mutery, Wala Kamal, Hawraa Abduljalil Hussein Al Bloushi, Mary Sebastian Manjuran, Naushad Rais","doi":"10.5897/IJGMB2016.0136","DOIUrl":"https://doi.org/10.5897/IJGMB2016.0136","url":null,"abstract":"Vesicular monoamine transporters (VMATs) are an important target for biological research in neuropsychiatric disorders. Recent studies indicated that VMAT1 is expressed in the brain, thus making transporter plausible candidate genes for neuropsychiatric disorders. Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia. Until now, there are no reports of VMAT 1 allele frequencies in Emirati population. Hence, the aim of the present work was to study VMAT1 genetic polymorphism in Healthy Emirati population. Saliva samples were collected from 248 healthy Emiratis and genotyping was done for rs2270641 by PCR-RFLP, and rs2270637 and rs1390938 by Taqman assay. The minor allele frequencies of rs2270641, rs2270637 and rs1390938 were 0.48, 0.20 and 0.18, respectively, which were compared with that of available HapMap population data. In conclusion, the present study is first of its kind in Emirati population that established the allele and genotype frequency for various VMAT1 alleles which can be exploited to design future studies on the genetic association of neuropsychiatry disorders. \u0000 \u0000 \u0000 \u0000 Key words: Neuropsychiatry disorders, bipolar, monoamine, vesicular monoamine transporters, vesicular monoamine transporter (VMATs).","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"37 1","pages":"16-20"},"PeriodicalIF":0.0,"publicationDate":"2017-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78957747","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 : 2017-05-26DOI: 10.11648/J.IJGG.20170505.11
A. Ibrahim, E. G. Khalil
Transformation of myeloproliferative disorders (MPDs) to acute leukemia is an evitable event that represents a stumbling block in the management of patients. The Janus Kinase-2 JAK2V617F mutation of MDP does not clarify the phenotypic variability observed in this disorder. But, a mutations in Ten-eleven-translocation-2 (TET2), a putative tumor suppressor gene, was recently implicated in MPDs and other hematologic malignancies. TET-2 is believed to play a role in leukemic transformation. This study aimed to determine the frequency of L1721W polymorphism in TET2 gene in a cohort of Sudanese patients with MPDs. Following informed consent, 25 (25/50, 50%) patients with polycythemia rubra vera (PRV), thirteen patients (13/50, 26%) with essential thrombocythemia (ET), eleven patients (11/50, 22%) with chronic myeloid leukemia (CML), and one patient (1/50, 2%) with primary myelofibrosis (PMF) were enrolled. None of the patients was in the transformation phase. Patients were diagnosed based on clinical picture, hematological parameters and JAK2V617F and BCR_ABL molecular aberrations. JAK2V617F was detected in Ph-negative-MPDs cases as (24/25, 96%) in PRV, (10/13, 76%) in ET, and (1/1, 100%) in PMF. BCR_ABL fusion was detected in all (11/11, 100%) cases of CML. DNA was extracted using the guanidine chloride method, followed by (PCR-RFLP) analysis. Only one patient showed the presence of L1721W polymorphism of the TET2. It was inferred that the low frequency of this transformation within the study cohort [all in chronic phase] probably indicates that it plays a minor role in MPD pathogenesis, while its role in blast transformation needs further studies in MPD patients.
{"title":"Frequency of L1721W Polymorphism in TET2 Gene Among a Cohort of Sudanese Patients with Myeloproliferative Disorders: Possible Roles in Pathogenicity and Leukemic Transformation","authors":"A. Ibrahim, E. G. Khalil","doi":"10.11648/J.IJGG.20170505.11","DOIUrl":"https://doi.org/10.11648/J.IJGG.20170505.11","url":null,"abstract":"Transformation of myeloproliferative disorders (MPDs) to acute leukemia is an evitable event that represents a stumbling block in the management of patients. The Janus Kinase-2 JAK2V617F mutation of MDP does not clarify the phenotypic variability observed in this disorder. But, a mutations in Ten-eleven-translocation-2 (TET2), a putative tumor suppressor gene, was recently implicated in MPDs and other hematologic malignancies. TET-2 is believed to play a role in leukemic transformation. This study aimed to determine the frequency of L1721W polymorphism in TET2 gene in a cohort of Sudanese patients with MPDs. Following informed consent, 25 (25/50, 50%) patients with polycythemia rubra vera (PRV), thirteen patients (13/50, 26%) with essential thrombocythemia (ET), eleven patients (11/50, 22%) with chronic myeloid leukemia (CML), and one patient (1/50, 2%) with primary myelofibrosis (PMF) were enrolled. None of the patients was in the transformation phase. Patients were diagnosed based on clinical picture, hematological parameters and JAK2V617F and BCR_ABL molecular aberrations. JAK2V617F was detected in Ph-negative-MPDs cases as (24/25, 96%) in PRV, (10/13, 76%) in ET, and (1/1, 100%) in PMF. BCR_ABL fusion was detected in all (11/11, 100%) cases of CML. DNA was extracted using the guanidine chloride method, followed by (PCR-RFLP) analysis. Only one patient showed the presence of L1721W polymorphism of the TET2. It was inferred that the low frequency of this transformation within the study cohort [all in chronic phase] probably indicates that it plays a minor role in MPD pathogenesis, while its role in blast transformation needs further studies in MPD patients.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"125 1","pages":"49"},"PeriodicalIF":0.0,"publicationDate":"2017-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88998928","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}
Bacterial populations within hypersaline lakes often exhibit uncultured unique species. Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE), followed by sequencing of 16S rRNA gene approach was applied in order to explore, for the first time, the bacterial communities within the hypersaline Lakes, Aghormy, Zeiton and Maraqi, Siwa Oasis, Egypt. The DGGE profile displayed 12 phylotypes of 16S rRNA gene, representing the total species richness within the three studied lakes. The phylotypes were varied among lakes, but were restricted to two phylogenetic groups, Bacteroidetes, which occurred in all lakes, and Alphaproteobacetria, which showed abundance in only Lakes Zeiton and Maraqi. Single spirochete-like phylotype characterized the Lake Aghormy. A phylotype, which was recorded in both of Aghormy and Zeiton, represented a first recorded of Lewinella agarilytica in hypersaline inland lakes. Sequence homology results suggested novel indigenous bacterial phylotypes. Key words: Siwa lakes, halophilic bacteria, 16S rRNA gene, molecular diversity.
{"title":"Biodiversity of uncultured bacteria in hypersaline lakes, Siwa oasis, Egypt, as determined by polymerase chain reaction and denaturing gradient gel electrophoresis (PCR-DGGE) of 16S rRNA gene phylotypes","authors":"H. Elsaied, M. S. A. El-Karim, Mai A. Wassel","doi":"10.5897/IJGMB2016.0130","DOIUrl":"https://doi.org/10.5897/IJGMB2016.0130","url":null,"abstract":"Bacterial populations within hypersaline lakes often exhibit uncultured unique species. Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE), followed by sequencing of 16S rRNA gene approach was applied in order to explore, for the first time, the bacterial communities within the hypersaline Lakes, Aghormy, Zeiton and Maraqi, Siwa Oasis, Egypt. The DGGE profile displayed 12 phylotypes of 16S rRNA gene, representing the total species richness within the three studied lakes. The phylotypes were varied among lakes, but were restricted to two phylogenetic groups, Bacteroidetes, which occurred in all lakes, and Alphaproteobacetria, which showed abundance in only Lakes Zeiton and Maraqi. Single spirochete-like phylotype characterized the Lake Aghormy. A phylotype, which was recorded in both of Aghormy and Zeiton, represented a first recorded of Lewinella agarilytica in hypersaline inland lakes. Sequence homology results suggested novel indigenous bacterial phylotypes. \u0000 \u0000 Key words: Siwa lakes, halophilic bacteria, 16S rRNA gene, molecular diversity.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"14 1","pages":"8-15"},"PeriodicalIF":0.0,"publicationDate":"2017-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87269305","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 phylogenetic utility of the 16S gene in cichlids is assessed. Eighty-six (86) partial sequences belonging to 37 genera of cichlids from the Genbank was analyzed. The alignment had four hundred and sixty three (463) basepairs with 337 conserved sites and 126 variable sites. Base compositional bias is similar to that found in higher organism with Adenine having the highest average of 30.3%, followed by cytosine, guanine and thiamine with the average values of 26.1, 21.9 and 21.7% respectively. The most suitable evolutionary model is the K2+G+I model as this had the lowest Bayesian Information Criterion. There were 4 major indels at basepair positions 328 which is unique to the Heterotilapia buttikoferi, position 369 unique to Gramatoria lemarii, position 396 which is shared by Tilapia sparrmanii, T. guinasana and T. zilli. The indel at position 373 was found in all tested species except the Oreochromis mossambicus. The Tilapine general is the basal group in Cichlids. The 16S gene separates the Tilapia genera without any ambiguity but there were phylogenetic overlaps in the Sarotherodon and Oreochromis. More finite molecular and statistical methodology may be needed to distinguish the Sarotherodon and Oreochromis. The diversity of cichlids is generally very low due to a common ancestry with little differentiation genetically. The grouping of the Oreochromis and Sarotherodon genera together in the same clade is not unconnected with the preservation of genetic beacons that the group retained as it evolved. Key words: Cichlids, 16S gene, phylogeny, evolutionary model, monophyletic, conserved segment, speciose, indels
{"title":"The cichlid 16S gene as a phylogenetic marker: Limits of its resolution for analyzing global relationship","authors":"O. Sokefun","doi":"10.5897/IJGMB2016.0131","DOIUrl":"https://doi.org/10.5897/IJGMB2016.0131","url":null,"abstract":"The phylogenetic utility of the 16S gene in cichlids is assessed. Eighty-six (86) partial sequences belonging to 37 genera of cichlids from the Genbank was analyzed. The alignment had four hundred and sixty three (463) basepairs with 337 conserved sites and 126 variable sites. Base compositional bias is similar to that found in higher organism with Adenine having the highest average of 30.3%, followed by cytosine, guanine and thiamine with the average values of 26.1, 21.9 and 21.7% respectively. The most suitable evolutionary model is the K2+G+I model as this had the lowest Bayesian Information Criterion. There were 4 major indels at basepair positions 328 which is unique to the Heterotilapia buttikoferi, position 369 unique to Gramatoria lemarii, position 396 which is shared by Tilapia sparrmanii, T. guinasana and T. zilli. The indel at position 373 was found in all tested species except the Oreochromis mossambicus. The Tilapine general is the basal group in Cichlids. The 16S gene separates the Tilapia genera without any ambiguity but there were phylogenetic overlaps in the Sarotherodon and Oreochromis. More finite molecular and statistical methodology may be needed to distinguish the Sarotherodon and Oreochromis. The diversity of cichlids is generally very low due to a common ancestry with little differentiation genetically. The grouping of the Oreochromis and Sarotherodon genera together in the same clade is not unconnected with the preservation of genetic beacons that the group retained as it evolved. \u0000 \u0000 \u0000 \u0000 Key words: Cichlids, 16S gene, phylogeny, evolutionary model, monophyletic, conserved segment, speciose, indels","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"64 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2017-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78705256","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 : 2017-03-21DOI: 10.11648/J.IJGG.20160406.13
Mikhail M. Shulak, M. Klunnyk, I. Matiyashchuk, O. Ivankova, M. Skalozub, N. Sych, M. Demchuk, Andriy Sinelnyk, Timur V. Karayev, K. Sorochynska
The principal objective was studying effects of complex treatment using fetal stem cells (FSCs) on recovery of hematopoietic function. 50 patients suffering from aplastic anemia of different disease severity were under study and underwent complex treatment by use of cryopreserved suspensions containing fetal liver cells extracted from 7-12 week gestation fetuses. During the above study we proved effectiveness of FSCs use for the patients with acquired aplastic anemia (AAA). Positive effects on patient’s subjective assessment of his/her condition along with an objective increase of tolerance to physical exercises were reported as early as during the first week after FSCs transplantation. We also recorded a stabilization of erythrocytes count, hemoglobin levels, platelets and leukocytes values in all patients under study. Reverse of infectious, hemorrhagic and anemic syndromes was achieved after treatment by use of FSCs. Significantly high erythrocytes and leucocytes counts controlled by laboratory tests together with reverse of anemia, hemorrhagic signs and infectious syndromes in the patients were also remarkable over 14 days after treatment. Within 7 days the patients felt improvement of their general state and increased tolerance to physical exercises. It has been proved that complex treatment by use of FSCs along with conventional therapy leads to stabilization of laboratory blood parameters and improved life quality among the patients with aplastic anemia.
{"title":"Fetal Stem Cells Use in Complex Treatment of Patients with Acquired Aplastic Anemia and Therapy Effect on Recovery of Hematopoietic Functions","authors":"Mikhail M. Shulak, M. Klunnyk, I. Matiyashchuk, O. Ivankova, M. Skalozub, N. Sych, M. Demchuk, Andriy Sinelnyk, Timur V. Karayev, K. Sorochynska","doi":"10.11648/J.IJGG.20160406.13","DOIUrl":"https://doi.org/10.11648/J.IJGG.20160406.13","url":null,"abstract":"The principal objective was studying effects of complex treatment using fetal stem cells (FSCs) on recovery of hematopoietic function. 50 patients suffering from aplastic anemia of different disease severity were under study and underwent complex treatment by use of cryopreserved suspensions containing fetal liver cells extracted from 7-12 week gestation fetuses. During the above study we proved effectiveness of FSCs use for the patients with acquired aplastic anemia (AAA). Positive effects on patient’s subjective assessment of his/her condition along with an objective increase of tolerance to physical exercises were reported as early as during the first week after FSCs transplantation. We also recorded a stabilization of erythrocytes count, hemoglobin levels, platelets and leukocytes values in all patients under study. Reverse of infectious, hemorrhagic and anemic syndromes was achieved after treatment by use of FSCs. Significantly high erythrocytes and leucocytes counts controlled by laboratory tests together with reverse of anemia, hemorrhagic signs and infectious syndromes in the patients were also remarkable over 14 days after treatment. Within 7 days the patients felt improvement of their general state and increased tolerance to physical exercises. It has been proved that complex treatment by use of FSCs along with conventional therapy leads to stabilization of laboratory blood parameters and improved life quality among the patients with aplastic anemia.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"8 1","pages":"55"},"PeriodicalIF":0.0,"publicationDate":"2017-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74250372","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 : 2017-03-10DOI: 10.11648/j.ijgg.20170501.12
Shuo Li, Yu-ming Xu, Hong Zheng, E. Randell, Haijian Wang, J. Cui, G. Sun, G. Zhai, Fei-yu Han, Yagang Xie
The 9p21 locus, a strong risk locus for coronary arterial disease, has been also associated with other cardiovascular disease including ischemic stroke (IS) in Caucasians. However, the association between 9p21 locus and IS in Chinese Han population is still debatable because of ambiguous results reported previously. Genetic heterogeneity between Southern and Northern Chinese Han populations could be one of the reasons for this uncertainty. Four genetic variants selected from the three conjunctional LD blocks within the 44 kb candidate region on chromosome 9p21 were genotyped in 1,429 IS patients and 1,191 healthy controls from the Northern Chinese Han population. Among the four studied variants, the G allele of the SNP rs2383207 was significantly associated with IS with allele frequency 66.8% in patients and 63.4% in controls. This association appears to be dominant with an OR of 1.417 (p=0.003) for people with either GG or AG genotypes. We did not find any association for the other three SNPs (rs1333049, rs10757274, and rs10116277). Based our results, we conclude that the 9p21 locus is a susceptibility locus for IS in the Northern Chinese Han population; and the core risk region for IS is within an interval of less than 28kb.
{"title":"A Reduced Interval of Chromosome 9p21 Locus is Associated with Ischemic Stroke in Chinese Northern Han Population","authors":"Shuo Li, Yu-ming Xu, Hong Zheng, E. Randell, Haijian Wang, J. Cui, G. Sun, G. Zhai, Fei-yu Han, Yagang Xie","doi":"10.11648/j.ijgg.20170501.12","DOIUrl":"https://doi.org/10.11648/j.ijgg.20170501.12","url":null,"abstract":"The 9p21 locus, a strong risk locus for coronary arterial disease, has been also associated with other cardiovascular disease including ischemic stroke (IS) in Caucasians. However, the association between 9p21 locus and IS in Chinese Han population is still debatable because of ambiguous results reported previously. Genetic heterogeneity between Southern and Northern Chinese Han populations could be one of the reasons for this uncertainty. Four genetic variants selected from the three conjunctional LD blocks within the 44 kb candidate region on chromosome 9p21 were genotyped in 1,429 IS patients and 1,191 healthy controls from the Northern Chinese Han population. Among the four studied variants, the G allele of the SNP rs2383207 was significantly associated with IS with allele frequency 66.8% in patients and 63.4% in controls. This association appears to be dominant with an OR of 1.417 (p=0.003) for people with either GG or AG genotypes. We did not find any association for the other three SNPs (rs1333049, rs10757274, and rs10116277). Based our results, we conclude that the 9p21 locus is a susceptibility locus for IS in the Northern Chinese Han population; and the core risk region for IS is within an interval of less than 28kb.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"27 1","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2017-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78062184","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 : 2017-03-01DOI: 10.11648/J.IJGG.20170505.12
A. N. Shoutko, O. Gerasimova, L. P. Ekimova, F. K. Zherebtsov, V. Mus, Kirill S. Matyurin, A. M. Granov
The numbers of CD133+ and CD31+ lymphocytes and those in the G2-M phases in the total fraction of circulating lymphocytes from patients with fatal liver cirrhosis and advanced lung cancer were investigated by flow cytometry during a long period of conventional treatment with OLT or palliative surgery followed by myelosuppressive chemotherapy. The relationships of specific reproductive activity, sRA (G2-M/CD133+), and the number of committed liver α-fetoprotein-positive (AFP+) cells with the rate of patient deaths, characterized by exponential approximation survival curves for both diseases, were investigated. Subnormal sRA in patients after OLT and excessive sRA in LC patients above a healthy level were associated with higher death rates and lower survival, coinciding with strong immunosuppression caused by anti-rejection and anti-cancer therapies. These findings may be explained by morphogenesis (feeding) activity of circulating lymphocytes targeted toward both normal and malignant tissues rather than in terms of cellular immunity. The sRA changes may be a useful indicator for monitoring the potential for engraftment or tumor growth.
{"title":"Lymphocyte Reproductive Activity Normalized to Numbers of Hematopoietic Stem Cells in Blood and Rate of Death in Fatal Diseases","authors":"A. N. Shoutko, O. Gerasimova, L. P. Ekimova, F. K. Zherebtsov, V. Mus, Kirill S. Matyurin, A. M. Granov","doi":"10.11648/J.IJGG.20170505.12","DOIUrl":"https://doi.org/10.11648/J.IJGG.20170505.12","url":null,"abstract":"The numbers of CD133+ and CD31+ lymphocytes and those in the G2-M phases in the total fraction of circulating lymphocytes from patients with fatal liver cirrhosis and advanced lung cancer were investigated by flow cytometry during a long period of conventional treatment with OLT or palliative surgery followed by myelosuppressive chemotherapy. The relationships of specific reproductive activity, sRA (G2-M/CD133+), and the number of committed liver α-fetoprotein-positive (AFP+) cells with the rate of patient deaths, characterized by exponential approximation survival curves for both diseases, were investigated. Subnormal sRA in patients after OLT and excessive sRA in LC patients above a healthy level were associated with higher death rates and lower survival, coinciding with strong immunosuppression caused by anti-rejection and anti-cancer therapies. These findings may be explained by morphogenesis (feeding) activity of circulating lymphocytes targeted toward both normal and malignant tissues rather than in terms of cellular immunity. The sRA changes may be a useful indicator for monitoring the potential for engraftment or tumor growth.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"57 1","pages":"54-62"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83986070","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 : 2017-01-24DOI: 10.11648/j.ijgg.20170501.11
M. Ezeani, C. Onyenekwe, S. Meludu
Estimation of serum level of circulating immune complexes and its use for monitoring treatments have been carried out extensively in various disease conditions including autoimmune diseases and cancer, but little or no work has considered persistent circulation of immune complexes consequent to physiological anomalies that could mediate epimutation and subsequent epigenetic cell alteration and tumourigenesis. This review looked into the immuno-physiological activities of circulating immune complexes to expose its possible epigenomic consequences and potential role in epimutation. The environmental link between epigenetic cell alteration and formation of circulating immune complexes makes this review a unique one but on the other hand, gives room for concern. Immune complexes have strong capacity to stimulate various immune responses, yet the immunological activities of these circulating immune complexes are over looked or under estimated. Immune complexes is a normal immunological phenomenon but its persistence and subsequent deposition could induce endogenous assaults that would continuously and adversely perturb the epigenomic activities by fuelling chronic inflammation, activating transcription factors (NFkB), generation of reactive oxygen species (ROS) and frequent release of cytokines leading to epigenetic cell alteration especially in developing countries where environmental pollution is a serious factor.
{"title":"Persistent Circulating Immune Complexes: Potential Source of Epimutation and Cancer Poor Prognosis","authors":"M. Ezeani, C. Onyenekwe, S. Meludu","doi":"10.11648/j.ijgg.20170501.11","DOIUrl":"https://doi.org/10.11648/j.ijgg.20170501.11","url":null,"abstract":"Estimation of serum level of circulating immune complexes and its use for monitoring treatments have been carried out extensively in various disease conditions including autoimmune diseases and cancer, but little or no work has considered persistent circulation of immune complexes consequent to physiological anomalies that could mediate epimutation and subsequent epigenetic cell alteration and tumourigenesis. This review looked into the immuno-physiological activities of circulating immune complexes to expose its possible epigenomic consequences and potential role in epimutation. The environmental link between epigenetic cell alteration and formation of circulating immune complexes makes this review a unique one but on the other hand, gives room for concern. Immune complexes have strong capacity to stimulate various immune responses, yet the immunological activities of these circulating immune complexes are over looked or under estimated. Immune complexes is a normal immunological phenomenon but its persistence and subsequent deposition could induce endogenous assaults that would continuously and adversely perturb the epigenomic activities by fuelling chronic inflammation, activating transcription factors (NFkB), generation of reactive oxygen species (ROS) and frequent release of cytokines leading to epigenetic cell alteration especially in developing countries where environmental pollution is a serious factor.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"14 1","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2017-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84324526","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 : 2017-01-01DOI: 10.35841/genetics-molecular-biology.1.1.1-9
A. Yakubu, Joy Madaki
This study was embarked upon to evaluate body weight (BW) from age (weeks) of Sasso hens in Nasarawa State, Nigeria. A total of one hundred and eight (108) Sasso hens aged 30 weeks were randomly selected from a larger stock kept at the Livestock Farm. Fifty-four of these birds were kept on deep litter while another fifty-four were reared in battery cages. The birds in each system of management were replicated three times with eighteen birds per replicate in a completely randomized design. In both deep litter and battery cage systems, data were collected on weekly body weights of birds from week 31-52 of rearing. Only data from forty (battery cage) and forty-three (deep litter) surviving birds were eventually used for further analyses. Effect of housing system on BW was subjected to T-Test. Phenotypic correlation between body weight (BW) and age of birds was established in both systems of rearing. Linear, Quadratic, Gompertz, Artificial Neural Network (ANN) and the Classification and Regression Tree (CRT) models were used to predict BW from the age (including housing system for CRT model) of birds. There was no significant (P=0.558) difference in the total average weekly BW of birds on deep litter (3.38 ± 0.12 kg) and those in cages (3.37 ± 0.12 kg). The prediction of BW from age was best fitted using the ANN model in both the deep litter (R2 , adjusted R2 , RMSE and significance level were 87.0%, 87.0%, 0.04 and 0.000) and battery cage (R2 , adjusted R2 , RMSE and significance level were 99.0%, 99.0%, 0.01 and 0.000) systems. The CRT model, however, predicted the optimal BW to be greater than 32.5, but not above 47.5 weeks of age with R2 value of 93.4%. The present findings may be exploited in mapping out appropriate management practices geared towards increased production.
{"title":"Modelling Growth Of Dual-purpose Sasso Hens In The Tropics Using Different Algorithms","authors":"A. Yakubu, Joy Madaki","doi":"10.35841/genetics-molecular-biology.1.1.1-9","DOIUrl":"https://doi.org/10.35841/genetics-molecular-biology.1.1.1-9","url":null,"abstract":"This study was embarked upon to evaluate body weight (BW) from age (weeks) of Sasso hens in Nasarawa State, Nigeria. A total of one hundred and eight (108) Sasso hens aged 30 weeks were randomly selected from a larger stock kept at the Livestock Farm. Fifty-four of these birds were kept on deep litter while another fifty-four were reared in battery cages. The birds in each system of management were replicated three times with eighteen birds per replicate in a completely randomized design. In both deep litter and battery cage systems, data were collected on weekly body weights of birds from week 31-52 of rearing. Only data from forty (battery cage) and forty-three (deep litter) surviving birds were eventually used for further analyses. Effect of housing system on BW was subjected to T-Test. Phenotypic correlation between body weight (BW) and age of birds was established in both systems of rearing. Linear, Quadratic, Gompertz, Artificial Neural Network (ANN) and the Classification and Regression Tree (CRT) models were used to predict BW from the age (including housing system for CRT model) of birds. There was no significant (P=0.558) difference in the total average weekly BW of birds on deep litter (3.38 ± 0.12 kg) and those in cages (3.37 ± 0.12 kg). The prediction of BW from age was best fitted using the ANN model in both the deep litter (R2 , adjusted R2 , RMSE and significance level were 87.0%, 87.0%, 0.04 and 0.000) and battery cage (R2 , adjusted R2 , RMSE and significance level were 99.0%, 99.0%, 0.01 and 0.000) systems. The CRT model, however, predicted the optimal BW to be greater than 32.5, but not above 47.5 weeks of age with R2 value of 93.4%. The present findings may be exploited in mapping out appropriate management practices geared towards increased production.","PeriodicalId":88902,"journal":{"name":"International journal of genetics and molecular biology","volume":"68 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82530926","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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