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

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％,x2 =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: Uygur nationality; Han nationality; 5,10-Methylenetetraphydrofolate reductase; Polymorphism,genetic