scholarly journals Study of CYP3A5 genetic polymorphism in Vietnamese Kinh ethnic group

2020 ◽  
Vol 42 (1) ◽  
Author(s):  
Vu Phuong Nhung ◽  
Nguyen Dang Ton ◽  
Nguyen Hai Ha
Keyword(s):  
Enzyme Activity ◽  
Treatment Outcome ◽  
Genetic Polymorphism ◽  
Ethnic Group ◽  
Sanger Sequencing ◽  
Genetic Factors ◽  
Individual Variability ◽  
Cytochrome P450 3A5 ◽  
Exogenous Compounds ◽  
Endogenous Substrates

Cytochrome P450 3A5 (CYP) belongs to the CYP3A cluster, which encode for several enzymes involved in metabolism of various drugs, endogenous substrates as well as exogenous compounds. Among the four genes of CY3A cluster, CYP3A5 plays an important role in pharmacogenetics since this enzyme metabolizes over 30% of the clinically prescribed drugs. The inter-individual variability in clearance of CYP3A substrates mainly depends on the genetic factors. In the present study, after collecting peripheral bloods samples from 100 unrelated healthy Kinh ethnic group in Vietnam, Sanger sequencing was used in order to determine the CYP3A5 variants responsible for enzyme activity alteration (*3, *6, *8 and *9). It was shown that CYP3A5*3 is the most prevalent variant with 67.5%, in which a haft of individuals carrying *3 were homozygous for this allele. In contrast, the variants *6, *8 and *9 were not found the study subjects. The data observed in current study would support dosing of drugs that metabolized by CYP3A5 and thereby increase treatment outcome.  

scholarly journals Genetic Polymorphism Analysis of Mitochondrial DNA from Chinese Guangdong Liannan Yao ethnic group

2020 ◽  
Author(s):  
Shiyu Sun ◽  
Jinpeng Chen ◽  
Mingqi Zhang ◽  
Huang Huang ◽  
Xihong Lin ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Genetic Polymorphism ◽  
Ethnic Group ◽  
Southern China ◽  
Forensic Identification ◽  
Polymorphism Analysis ◽  
Single Nucleotide ◽  
Ethnic Populations ◽  
Characteristics Analysis ◽  
Nucleotide Transition

Abstract Background Genetic polymorphism and haplotype distribution characteristics analysis of mitochondrial DNA in Chinese Guangdong Liannan Yao group was conducted in this study, to provide genetic basis for tracing the origin and historical migration of Liannan Yao people.Results 46 mutation sites were found, and among which single nucleotide transition was the most commonly observed variant (86.17%). Multiple (sub)haplogroups were detected in Liannan Yao ethnic group, among which haplogroup D was the most common haplogroup (29.80%), and the least were C and Y(0.48% respectively). Conclusions The Liannan Yao population had the commonalities of the ethnic groups in southern China, but it was significantly different from other Chinese ethnic populations. The present results revealed that Liannan Yao ethnic group was genetically closer related to Fujian She ethnic population, Yunnan Yao population, and Hunnan Miao population. The data enriched the Chinese mtDNA database and provided a reference for forensic identification and screening for potential pathogenic mutations.

Mutation of COL2A1 in a Chinese Family with Presentations of Legg-Calvé-Perthes Disease

2020 ◽  
Author(s):  
denglu yan ◽  
zhaojie Wang ◽  
Zhi Zhang
Keyword(s):  
Femoral Head ◽  
Sanger Sequencing ◽  
Structural Changes ◽  
Genetic Factors ◽  
Mutation Detection ◽  
Perthes Disease ◽  
Chinese Family ◽  
Col2a1 Gene ◽  
Whole Exome ◽  
Missense Substitution

Abstract Background: The aim of this study was to identify genetic factors and chromosomal regions contributing to osteonecrosis of the femoral head (ONFH) in a Chinese family with presentations of Legg-Calvé-Perthes Disease (LCDP). Methods: In this study, we performed whole exon sequencing of a Chinese family with LCPD for mutation detection. Ten members had ONFH in twenty-seven family members in four generations family, 5 unaffected members of the studied family and 5 normal peoples as control were underwent whole exome sequencing for mutation detection. Structural modeling test was applied to analyze the potential structural changes caused by the missense substitution. Results: In this Chinese family affected by LCPD, the mutation (c.3508 G>A, p. Gly1170Ser) in exon 50 of COL2A1 in the Gly–X–Y domain was present in 10 patients but absent in 5 unaffected members of the studied family and in 5 control chromosomes from unaffected individuals of matched geographical ancestry. The COL2A1 gene mutation was further validated by Sanger sequencing, confirmed that were heterozygous for the mutation. Then, we identified the p.Gly1170Ser mutation in exon 50 of COL2A1 in a Chinese family with LCPD. Conclusions: This study maps the mutation of mutation (c.3508 G>A, p. Gly1170Ser) in exon 50 of COL2A1 in the Gly–X–Y domain in a Chinese family of LCPD, which causes osteonecrosis of femoral head.

scholarly journals Roles of Genes in the Susceptibility to and Severity of Rheumatoid Arthritis - A Review

1970 ◽  
Vol 13 (1) ◽  
pp. 51-54
Author(s):  
Abul Khair Ahmedullah ◽  
Shamim Ahmed ◽  
MD Ariful Islam
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Factors ◽  
Human Leukocyte ◽  
Drug Efficacy ◽  
Autoimmune Disorder ◽  
Individual Variability ◽  
Unknown Etiology ◽  
Entire Genome ◽  
Gene Effects ◽  
Leukocyte Antigen

Rheumatoid arthritis (RA) is a chronic heterogeneous autoimmune disorder of unknown etiology. Genetic factors play an important role in susceptibility to RA as the heritability of RA is between 50% and 60%, with the human leukocyte antigen (HLA) locus accounting for at least 30% of overall genetic risk. It is conceivable that there is more than one susceptible gene(s) operative in RA, and an interaction of the relevant genes may predispose the offspring to develop the disease under certain conditions .Outside the major histocompatibility complex (MHC) region, some additional risk loci have been identified and validated including PTPN22, STAT4, PADI4, CTLA4 and others Genetic factors are also important in RA pharmacotherapy due to the gene-dependent activity of enzymes involved in the pharmacokinetics and/or pharmacodynamics of RA medications. Indeed, there is great variability in drug efficacy as well as adverse events associated with any anti-rheumatic therapy and genetics is thought to contribute significantly to this inter-individual variability in response. The ability to screen the entire genome for association to complex diseases has great potential for identifying gene effects. DOI: http://dx.doi.org/10.3329/jom.v13i1.10048 JOM 2012; 13(1): 51-54

Impact of cytochrome P450 3A5 genetic polymorphism on tacrolimus doses and concentration-to-dose ratio in renal transplant recipients12

2003 ◽  
Vol 76 (8) ◽  
pp. 1233-1235 ◽  
Author(s):  
Eric Thervet ◽  
Dany Anglicheau ◽  
Barry King ◽  
Marie-H??l??ne Schlageter ◽  
Bruno Cassinat ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Genetic Polymorphism ◽  
Renal Transplant ◽  
Dose Ratio ◽  
Cytochrome P450 3A5

Vocabulary growth in second language among immigrant school-aged children in Greece

2012 ◽  
Vol 35 (3) ◽  
pp. 621-647 ◽  
Author(s):  
PANAGIOTIS G. SIMOS ◽  
GEORGIOS D. SIDERIDIS ◽  
ANGELIKI MOUZAKI ◽  
ASPASIA CHATZIDAKI ◽  
MARIA TZEVELEKOU
Keyword(s):  
Second Language ◽  
Cognitive Ability ◽  
Ethnic Group ◽  
Hierarchical Linear Modeling ◽  
Parental Education ◽  
Block Design ◽  
Individual Variability ◽  
Vocabulary Knowledge ◽  
Receptive Vocabulary ◽  
Vocabulary Growth

ABSTRACTThe goal of the study was to assess differences between native Greek and bilingual, immigrant children of Albanian descent learning Greek as a second language on a receptive vocabulary measure. Vocabulary measures were obtained at five time points, 6 months apart, from 580 children attending Grades 2–4. Individual variability on both initial performance (intercept) and growth rate (slope) was assessed using hierarchical linear modeling, which included linguistic/ethnic group, parental education (as a socioeconomic status [SES] indicator), gender, and a measure of nonverbal cognitive ability as time-invariant predictors of vocabulary growth. Results indicated that linguistic/ethnic group, parental education, and baseline nonverbal cognitive ability were significant predictors of initial vocabulary scores, whereas only linguistic/ethnic group and nonverbal ability accounted for significant variability in vocabulary growth rates. Additional analyses confirmed that linguistic/ethnic group remained a significant predictor of receptive vocabulary knowledge at both the intercept and the slope levels even after controlling for the initial differences between groups on parental education and block design subtest scores.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population 

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

2021 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals A história da lã: da domesticação à atualidade

2019 ◽  
Vol 20 ◽  
pp. 65-76
Author(s):  
Virgínia Santos ◽  
Ângela Martins ◽  
Mário Silvestre ◽  
Severiano Silva ◽  
Jorge Azevedo
Keyword(s):  
Ethnic Group ◽  
Ethnic Groups ◽  
Genetic Factors ◽  
Morphological Characteristics ◽  
Poor Quality ◽  
Wool Production ◽  
Sheep Breeds ◽  
The World ◽  
Different Types ◽  
Sheep Production

ResumoA produção de lã foi durante muitos anos, em Portugal e em várias regiões do mundo, uma das principais razões da exploração ovina. Esta situação foi alterada com o aparecimento das fibras sintéticas. A produção de carne ou de leite tornaram-se então as principais aptidões económicas destes animais. De qualquer forma, sendo absolutamente necessário tosquiar anualmente os ovinos, a lã pode proporcionar um rendimento extra, principalmente nos ovinos com velo de qualidade superior. Portugal apresenta 16 raças autóctones de ovinos que se enquadram em três grandes grupos étnicos, Merino, Bordaleiro e Churro, de acordo com as suas características morfológicas externas e aptidões. Cada um destes grupos étnicos apresenta tipos de velos com características têxteis diferentes. É assumido que as raças de etnia churra proporcionam lã considerada de má qualidade, caracterizada por ser lisa e de toque áspero. Em contrapartida as raças do grupo étnico Merino são consideradas como produtoras de lã de qualidade, caracterizada por ser macia ao tato e apresentar fibras muito onduladas. As características corporais e têxteis que os ovinos apresentam relacionam-se não só com fatores genéticos, mas também com as condições do meio ambiente onde vivem. Pretende-se com este trabalho contribuir para o conhecimento da origem da lã e perceber a diferenciação das raças ovinas autóctones nos três grupos étnicos existentes em Portugal. Palavras-chave: lã, velo, merino Abstract Wool production has been for many years, in Portugal and in several regions of the world, one of the main reasons for sheep production. This situation changed with the appearance of synthetic fibres. The production of meat or milk has thus become the primary economic aptitude of these animals. In any case, since it is necessary to shear the sheep annually, wool can provide extra yield, especially in sheep with a fleece of superior quality. Portugal presents 16 autochthonous sheep breeds that fall into three large ethnic groups, Merino, Bordaleiro and Churro, according to their external morphological characteristics and aptitudes. Each of these ethnic groups has different types of veils with different textile characteristics. It is assumed that breeds of Churra ethnic group provide wool considered of poor quality, characterised by being smooth and rough touch. In contrast, the breeds of the Merino ethnic group are considered to be producers of quality wool, characterised by being soft to the touch and presenting very undulating fibres. The physical and textile characteristics that sheep present relate not only to genetic factors but also to the conditions of the environment in which they live. This work intends to contribute to the knowledge of the origin of wool and to understand the differentiation of native sheep breeds in the three ethnic groups that exist in Portugal. Keywords: wool, fleece, merino

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