葡萄糖激酶基因多态性与妊娠期糖尿病遗传易感性的关系

Relationship between the polymorphism of glucokinase gene and genetic susceptibility of gestational diabetes mellitus

目的探讨葡萄糖激酶(GCK)基因-259位点单核苷酸多态性与妊娠期糖尿病(GDM)发病的关系。方法应用PCR-RFLP技术对80例GDM孕妇(GDM组)和80例正常孕妇(对照组)的GCK基因-259位点(A→T)进行单核苷酸多态性分析。结果两组GCK基因-259位点各基因型频率分布均符合Hardy-Weinberg平衡检验,具有群体代表性;GDM组GCK基因-259位点T等位基因频率高于对照组(P<0.05),A等位基因频率、A/A基因型频率无统计学差异(P>0.05),T/T基因型频率与GDM组呈正相关(OR值为3.235,P=0.031),结论GCK基因-259位点单核苷酸多态性可能在GDM遗传易感性中起重要作用;T等位基因可能与GDM发生有关。

Objective To investigate the relationship between the polymorphism of site -259 glucokinase（GCK） gene and the genetic susceptibility of gestational diabetes mellitus（GDM）. Methods The single-nucleotide polymorphism of site -259 （A→T.） in GCK gent from 80 GDM subjects （GCM group）and 80 normal pregnant controls （control group） were analyzed by using polymerase chain reaction（PCR）. Results The distribution of genotype frequencies of site -259 in both groups were accorded with Hardy-Weinberg＇s equation law, being colony representative. The frequency of T allele of site - 259 in GDM group was significantly higher than that in the control group （ P 〈 0.05 ） . There was no significant difference in the frequency of A allele and A/A genotype between GDM group and control group （P 〉 0.05 ）. The frequency of T/T geno-type of -259 was positively correlated with GDM genetic susceptibility. Conclusion The single-nncleotide polymorphism of site -259 （A→T） in GCK gene may contribute to the genetic susceptibility of GDM.T allele may be involved in pathogenesis of GDM.