β1 肾上腺素能受体基因（Ser49Gly 和 Arg389Gly）多态性在健康泰米尔志愿者中的研究。
Polymorphic variants of beta1 adrenergic receptor gene (Ser49Gly & Arg389Gly) in healthy Tamilian volunteers.
机构信息
Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
出版信息
Indian J Med Res. 2010 Jul;132:62-6.
BACKGROUND & OBJECTIVES: Several studies reported the polymorphisms of beta1-adrenergic receptor gene in healthy volunteers and its influence on cardiovascular disorders. We investigated the genotype and allele frequencies of Ser49Gly and Arg389Gly polymorphism in healthy volunteers of South Indian Tamilian population vis-à-vis other major ethnic groups.
METHODS
The genetic variants were determined by using Taqman 5' nuclease assay- real time PCR analysis in 533 normal healthy volunteers (18-60 yr; M=290; F=243). The allelic discrimination analysis was done by 7700 SDS software.
RESULTS
The estimated genotype and allele frequencies of Ser49Gly and Arg389Gly polymorphism were compared with other major populations. The frequencies of the variant alleles Gly49 and Gly389 were 15.1 and 25.8 per cent respectively.
INTERPRETATION & CONCLUSIONS: Our study shows that interethnic variation exists in the polymorphisms of beta1-adrenergic receptor gene and the results generated in this study might serve as a genetic marker for further studies in Tamilian (South India) population.
背景与目的
多项研究报道了β1-肾上腺素能受体基因在健康志愿者中的多态性及其对心血管疾病的影响。我们调查了南印度泰米尔纳德邦健康志愿者中 Ser49Gly 和 Arg389Gly 多态性的基因型和等位基因频率，并与其他主要种族群体进行了比较。
方法
使用 Taqman 5' 核酸酶检测-实时 PCR 分析在 533 名正常健康志愿者（18-60 岁；M=290；F=243）中确定遗传变异。通过 7700 SDS 软件进行等位基因鉴别分析。
结果
比较了 Ser49Gly 和 Arg389Gly 多态性的估计基因型和等位基因频率与其他主要人群。变异等位基因 Gly49 和 Gly389 的频率分别为 15.1%和 25.8%。
解释与结论
我们的研究表明，β1-肾上腺素能受体基因的多态性存在种族间差异，本研究的结果可作为进一步研究泰米尔纳德邦（印度南部）人群的遗传标记。
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