功能基因多态性之间的联系的人类sulfotransferases 1 a1和a2。
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Engelke CE,麦尔W,波音公司H, Glatt H
功能基因多态性之间的联系的人类sulfotransferases 1 a1和a2。
药物基因学。2000年3月,10 (2):163 - 9。
- PubMed ID
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10762004 (在PubMed]
- 文摘
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三个人类苯酚sulfotransferases,暂时命名为SULT1A1 1 a2和a3,显示91 - 96%同源的氨基酸序列,由邻近位点的基因编码。功能基因多态性两个sulfotransferases而著称。SULT1A1, G转换导致了Arg213交换,消除了Bsp143II限制站点。SULT1A1 *他显示比SULT1A1 *参数降低酶活性和热稳定性。在SULT1A2, A到C颠换会导致应用Asn235刺交流和介绍了BpiI限制站点。酶SULT1A2 *比SULT1A2 * Asn刺不太活跃。这些替换被限制片段长度多态性分析基因组序列的扩增聚合酶链反应。尽管不同人类SULT1A基因之间的相似性高,可以放大特别的多态部分SULT1A1或1 a2,但不是其他饥饿的同源序列,通过设置正向引物在基因内区6。DNA从300成年男性白种人的主题进行了分析。等位基因频率分别为0.63和0.37 SULT1A1 *参数和*他,和0.62和0.38 SULT1A2 * Asn和*用力推,分别。 The frequency of the haplotype SULT1A1*Arg/SULT1A2*Asn (0.61) was nearly as high as the allele frequencies of its components. The same was observed for the haplotype SULT1A1*His/SULT1A2*Thr, whose frequency was 0.35. In contrast, haplotypes 1A1*Arg/1A2*Thr and 1A1*His/1A2*Asn were very rare. Their frequencies (0.02 each) were less than 10% of the figures expected in an independent distribution. The results demonstrate a strong association of the alleles producing the more active enzyme variants (SULT1A1*Arg and SULT1A2*Asn) and of those encoding the less active variants (SULT1A1*His and SULT1A2*Thr).