关键词: 基因多态性, 2型糖尿病, 关联性, 遗传, 基因型, 频数

Abstract:

Objective To investigate the  association between the polymorphisms of 4 Tag SNPs of steroid receptor co-activator 1（SRC-1）gene and type 2 d
iabetes mellitus（T2DM） in  Han population from North China,and to discuss whether the SRC-1 g
ene was the predisposing gene of  T2DM.Methods190 T2DM patients were selected as case group and 193 normal persons were select
ed as control group.The genotypic frequencies and the allelic frequencies of rs3731628,rs45788
07, and rs11677500 sites in two groups were compared by  PCR technique and matrix-assisted laser desorption/ionization time of fli
ght mass spectrometry(MAIL-TOF-MS) method; the relationship between the combined effects of multilocus from 3 sites
  of SRC-1  gene and T2DM  was analyzed by haplotype method.Results The genotypic frequencies of rs3731628 and rs11677500 sites of SRC-1  gene did not deviate from Hardy -Weinberg equilibrium in both case and control groups (P> 0.05).The genotypic frequencies of rs4578807 site o f SRC-1  gene deviated from Hardy -Weinberg equilibrium in both case and control groups (P<0.05).There were no significant differences of the frequencies of the genotypes and the alleles of rs37316
28,rs4578807 and rs11677500 sites between two groups(P>0.05).There were no significant differences among the haplotypes formated by every two of rs3731628,r
s4578807 and rs11677500 sites (P>0.05 ).Conclusion There may be no genetic association between the polymorphism of rs3731628 and rs11677500 sites of SRC-1
gene and T2DM in Han population from North China，and SRC-1 gene is not the predisposing gene.
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Key words: gene polymorphism, type 2 diabetes , mellitus, association, heredity, genotype, frequency