中华皮肤科杂志 ›› 2012, Vol. 45 ›› Issue (3): 178-180.

• 论著 • 上一篇    下一篇

新疆维、汉族人群5，10-亚甲基四氢叶酸还原酶C677T 多态性调查

王丽娜,普雄明   

  1. 新疆维吾尔自治区人民医院皮肤性病科
  • 收稿日期:2010-12-17 修回日期:2011-12-05 出版日期:2012-03-15 发布日期:2012-02-29
  • 通讯作者: 普雄明 E-mail:puxiongming@126.com

Polymorphism of 5,10-methylenetetrahydrofolate reductase gene in Xinjiang Uygur and Han nationality population

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  • Received:2010-12-17 Revised:2011-12-05 Online:2012-03-15 Published:2012-02-29

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摘要：

目的 探讨新疆维、汉族人群5，10-亚甲基四氢叶酸还原酶基因（MTHFR）C677T多态性的分布特点。方法　限制性片段长度多态性扩增技术（PCR-RFLP）分析MTHFR C677T基因型在新疆134例维族和166例汉族人群的分布频率。结果　新疆汉族人群MTHFR C677T基因型频率分别为C/C 21.7%、C/T 53.0%和T/T 25.3%，维族为C/C 16.4%、C/T 80.6%和T/T 2.96%，两者差异有统计学意义（P < 0.01）。维族男性该基因型频率分别为16.95%、29.67%和3.39%，女性为16.0%、81.33%和2.67%；汉族男性为25.8%、47.1%和27.1%，女性为17.28%、59.26%和23.46%，维族与汉族男女性差异均无统计学意义（P > 0.05）。结论　新疆维、汉族MTHFR C677T的三种基因型CC、CT、TT的分布存在差异，在性别间未见差异。

关键词: 不良反应

Abstract:

Objective To characterize the C677T polymorphism of 5,10-methylenetetrahydrofolate reductase （MTHFR） gene in Xinjiang Uygur and Han nationality population. Methods The C677T polymorphism of MTHFR gene was detected by using PCR-restriction fragment length polymorphism（RFLP） in 134 Uygur and 166 Han nationality people. Results There were 3 MTHFR C677T genotypes, i.e., CC, CT, and TT. A significant difference was observed in the frequency of CC, CT, and TT genotypes of MTHFR C677T polymorphism between Han and Uygur nationality people （21.7%, 53.0% and 25.3% vs. 16.4%, 80.6% and 2.96%, ?字2 = 33.78, P < 0.01）. The frequency of CC, CT, and TT genotypes of MTHFR C677T polymorphism was 16.95%, 79.67%, 3.39% respectively, in men of Uygur nationality, 16.0%, 81.33%, 2.67% respectively, in women of of Uygur nationality, 25.8%, 47.1% and 27.1% respectively in men of Han nationality, 17.28%, 59.26% and 23.46% respectively in women of Han nationality. There was no gender difference in the distribution of MTHFR C677T polymorphism in Han or Uygur nationality population（both P < 0.05）. Conclusions There is a significant difference between Uygur and Han nationality population, but no gender difference is observed, in the distribution of MTHFR C677T genotypes in Xinjiang Uygur Autonomous Region.

Key words: adverse reaction