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首页> 外文期刊>Journal of neurological sciences (Turkish) >Genotype and Allele Frequencies of MDR-1 C3435T Polymorphism in Turkish Population
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Genotype and Allele Frequencies of MDR-1 C3435T Polymorphism in Turkish Population

机译:土耳其人群中MDR-1 C3435T多态性的基因型和等位基因频率

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The response to the medications and the adverse effects of the drugs varies between individuals in the same population due to genetic variation in drug metabolizing enzymes. Single nucleotide polymorphism at 26 exon (C3435T) of MDR1 gene decreases the expression of P-glycoprotein and cause to variability of expression between individuals. Furthermore, interethnic difference of MDR1 gene polymorphism is also present. One hundred seventy four healthy subjects showing a homogeneous distribution through the country, without any remarkable medical or family history were investigated. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was applied to assess C3435T SNP MDR1 polymorphism. The mean age of 174 subjects was 35.1 years (±14.74), varying between 10-86 years. 56.3 % (n=98) of the subjects were male and 43.7 % (n=76) were female. Allele distribution was 51 % for C allele and 49 % for T allele. Genotype distribution was 25.8 % for TT, 28.2 % for CC and 46 % for CT. Totally 72 % of the population carries the defective allele. There was no relation between sexes and genotype. This study shows the distribution of allelic variation of MDR1 gene in Turkish population. The data obtained may be useful in clinical pharmacogenetic investigations and epidemiological studies of the MDR1 gene variation.
机译:由于药物代谢酶的遗传变异,同一人群中对药物的反应和药物的不良反应会有所不同。 MDR1基因第26外显子(C3435T)的单核苷酸多态性会降低P-糖蛋白的表达,并导致个体之间表达的差异。此外,还存在MDR1基因多态性的种族差异。调查了一百七十四名健康受试者,他们在全国各地分布均匀,没有任何明显的医学或家族史。聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析用于评估C3435T SNP MDR1多态性。 174名受试者的平均年龄为35.1岁(±14.74),介于10-86岁之间。男性为56.3%(n = 98),女性为43.7%(n = 76)。 C等位基因的等位基因分布为51%,T等位基因的等位基因分布为49%。 TT的基因型分布为25.8%,CC的为28.2%,CT的为46%。共有72%的人口携带有缺陷的等位基因。性别与基因型之间没有关系。这项研究表明MDR1基因的等位基因变异在土耳其人口中的分布。获得的数据可能对MDR1基因变异的临床药物遗传学研究和流行病学研究有用。

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