The three opioid receptor genes, and in particular the mu and delta loci (OPRM1 and OPRD1, respectively), are compelling candidates to influence risk for substance dependence. Previous study of a variant at the OPRD1 locus, T921C, has shown association with opioid dependence. This variant does not alter protein sequence, and could not be directly responsible for a physiologic effect. We sequenced the OPRD1 coding region in six individuals with differing T921C alleles, to identify new common variants more likely to explain the association with phenotype. We identified one novel variant in exon 1, 80T-->G, which predicts a change in amino acid sequence from phenylalanine (80T) to cysteine (80G) (F27C). We present here basic population genetics of this variant, and population genetic data for the T921C variant. We found significant differences in allele frequency between populations, and a maximum frequency of the 80G allele of 9%, in each of two European populations. This variant could contribute to the previously reported association results.

译文

:三个阿片样物质受体基因,特别是mu和delta位点(分别为OPRM1和OPRD1),是影响物质依赖风险的诱人候选物。先前对OPRD1基因座的变体T921C的研究表明与阿片样物质依赖性有关。该变体不改变蛋白质序列,并且不能直接负责生理作用。我们在六个具有不同T921C等位基因的个体中对OPRD1编码区进行了测序,以鉴定出更可能解释与表型关联的新的常见变体。我们在第1外显子80T-> G中鉴定出一个新的变异体,该变异体预测了氨基酸序列从苯丙氨酸(80T)变为半胱氨酸(80G)(F27C)的变化。我们在这里介绍了该变种的基本种群遗传学,以及T921C变种的种群遗传数据。我们发现在两个欧洲人群中,人群之间的等位基因频率存在显着差异,而80G等位基因的最大频率为9%。此变体可能有助于先前报告的关联结果。

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