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

The investigation of polymorphism on G6PD c.1311C>T/IVS-1193T>C and 3′-UTR(untranslated regions)

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。

Objective To explore the linkage relationship of G6PD c.1311C〉T/IVS-11 93T〉Cpoly- morphism with the 3＇-UTR polymorphism in the Chinese population, and investigate the frequency of c.1311C〉 T/IVS-11 93T〉C polymorphism in healthy individuals in the eastern Guangdong province and northern China. Methods The activity of G6PD enzyme was analyzed through Auto-bioanalyzer, and the G6PD c.1311C〉T/ IVS-ll 93T〉C gene polymorphism was detected by DNA sequencing. Specific primers were designed for ampli- fication of the 5＇ and 3＇-UTR of the G6PD gene. Results 39 cases of G6PD deficiency were detected with c.1311C〉T/IVS-1193T〉C polymorphism in the northern China. However, no variation in the 3＇ and 5＇-UTR re- gions was found among those samples. At the same time, c.1311C〉T/IVS-1193T〉C polymorphism was also de- tected in individuals with normal G6PD activity. The frequencies of c.1311C〉T/IVS-1193T〉C polymorphism in healthy individuals of Chaozhou and Meizhou area were 15.7% and 12%, respectively. Furthermore, the frequen- cy of the polymorphism in healthy individuals of Zhengzhou and Shijiazhuang were 2% and 8% respectively. The frequencies of the polymorphism in healthy individuals were statistically significant in the North and the South. Conclusion The UTR SNP variations were not found among G6PD deficiency samples detected with c.1311C〉T/IVS-1193T〉C gene polymorphism in the eastern Guangdong province. The relationship of G6PD c.1311C〉T/IVS-1193T〉C polymorphism with G6PD deficiency requires further study.