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Genetic polymorphisms and linkage disequilibrium of sulfotransferase SULT1A1 and SULT1A2 in a Korean population: comparison of other ethnic groups

机译:朝鲜族人群中磺基转移酶SULT1A1和SULT1A2的遗传多态性和连锁不平衡:其他种族的比较

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摘要

Aims: To determine the allele frequencies of sulfotransferases (SULTs) 1A1 and 1A2 and their linkage disequilibrium in a Korean population and compare them with those of other ethnic groups. Methods: Genotypes of the SULT1A1*1, *2, and *3 and SULT1A2*1, *2, and *3 allelic variants were determined in 234 Korean subjects using polymerase chain reaction (PCR)–restriction fragment length polymorphism (RFLP) methods. Results: Allele frequencies for SULT1A1*1 and *2 were 0.876 [95% confidence interval (CI), 0.843–0.905] and 0.124 (95% CI, 0.096–0.157), respectively. Similarly, those for SULT1A2*1 and *2 were 0.885 (95% CI, 0.852–0.912) and 0.115 (95% CI, 0.088–0.150), respectively. However, no subject with SULT1A1*3 or SULT1A2*3 was detected. These genotype distributions are similar to those of Asian populations including the Chinese and Japanese, but quite different from other ethnic groups such as African-Americans and Caucasians. The expected allelic frequencies of SULT1A1 and SULT1A2 at Hardy–Weinberg equilibrium are quite similar to the observed distributions in the population. SULT1A1*2 and SULT1A2*2, the most common variant alleles of these two genes, are strongly and positively linked in the Korean population (D′=0.8919, χ2 =343.24, P=0.0034). Conclusions: SULT1A1*2 and SULT1A2*2 are the major allelic variants in the Korean population, whereas the SULT1A1*3 and SULT1A2*3 alleles were not found. SULT1A1*2 and SULT1A2*2 are strongly linked.
机译:目的:确定韩国人群中磺基转移酶(SULTs)1A1和1A2的等位基因频率及其连锁不平衡,并将其与其他种族的等位基因频率进行比较。方法:使用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)方法在234名韩国受试者中确定了SULT1A1 * 1,* 2和* 3和SULT1A2 * 1,* 2和* 3等位基因的基因型。结果:SULT1A1 * 1和* 2的等位基因频率分别为0.876 [95%置信区间(CI),0.843-0.905]和0.124(95%CI,0.096-0.157)。同样,SULT1A2 * 1和* 2的那些分别为0.885(95%CI,0.852-0.912)和0.115(95%CI,0.088-0.150)。但是,未检测到具有SULT1A1 * 3或SULT1A2 * 3的对象。这些基因型分布与包括中国人和日本人在内的亚洲人群的基因型分布相似,但与其他种族群体(如非裔美国人和高加索人)存在很大差异。在Hardy-Weinberg平衡状态下,SULT1A1和SULT1A2的预期等位基因频率与人群中观察到的分布非常相似。这两个基因中最常见的变异等位基因SULT1A1 * 2和SULT1A2 * 2在朝鲜族人群中具有强正相关(D'= 0.8919,χ2 = 343.24,P = 0.0034)。结论:SULT1A1 * 2和SULT1A2 * 2是韩国人群中的主要等位基因变异,而未发现SULT1A1 * 3和SULT1A2 * 3等位基因。 SULT1A1 * 2和SULT1A2 * 2是牢固链接的。

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