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