葡萄糖-6-磷酸脱氢酶(G6PD)c.1311C>T/IVS-1193T>C与3'-UTR的多态性探讨
Journal of Molecular Diagnosis and Therapy(2016)
Abstract
目的 对中国人群葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenas,G6PD)c.1311C>T/IVS-11 93T>C基因多态性与3’-非翻译区(3'-untranslated regions,3’-UTR)的多态连锁相关性进行研究.同时了解粤东、华北地区健康人群中该突变基因的携带情况. 方法 应用全自动生化仪速率法测定G6PD活性,基因测序检测G6PD c.1311C>T/IVS-11 93T>C基因多态性.根据G6PD基因UTR区设计特异性引物,测序确证携带c.1311C>T/IVS-11 93T>C基因多态性的G6PD缺乏标本是否连锁有UTR单个碱基上的变异(single nucleotide polymorphisms,SNP)位点的变异. 结果 华南地区有39例G6PD缺乏样本检测到携带c.1311C>T/IVS-11 93T>C基因突变,其3’-UTR和5'-UTR端没有检测到SNP位点的变异.同时,我们研究发现G6PD酶活性正常的人群中也携带有c.1311C>T/IVS-11 93T>C变异,其在潮州、梅州各100名正常人群中发生率分别为15.7%和12%,在郑州和石家庄各50名正常人群中发生率分别为2%和8%.该变异在中国南方与北方的正常人群之间相比较有统计学差异.粤东地区G6PD缺乏者中携带c.1311C>T/IVS-11 93T>C基因突变的样本并未发现连锁有UTR SNP位点突变.结论 关于G6PD c.1311C>T/IVS-11 93T>C基因突变与G6PD缺乏之间的相关性值得进一步探讨.
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