G6PD基因与早期不明原因流产的关系探讨

The role of G6PD gene in unexplained abortion villus

目的探讨G6PD基因与早期不明原因流产的关系。方法对56例不明原因流产绒毛标本及30例正常绒毛标本进行G6PD基因测序。结果实验组G6PD基因测序结果中发现19例(33.9%)SNP,其中11例(19.6%)为c.1311C>T/93T>C单倍体型、6例(10.7%)为rs3216174、1例(1.8%)为rs200111236、1例(1.8%)为rs200729823;并发现1例(1.8%)错意突变,为c.1024C>T。对照组G6PD基因测序结果中仅发现4例SNP(13.3%),均为c.1311C>T/93T>C单倍体型。两组SNP频率比较差异有显著性(χ2=4.86,P<0.05)。结论 G6PD基因在早期不明原因流产绒毛中存在较高频率的SNP位点,推测G6PD基因在早期胚胎发育中具有一定的临床效应。

Objective： To discuss the relationship between G6PD gene and unexplained abortion. Method： G6PD gene sequencing was performed on 56 cases of unexplained abortion villus and 30 cases of normal villus. Result： In the experimental group, 19 cases were found to be abnormal, including 11 cases of haplotype c.1311C〉T/IVS11 93T〉C, 1 case of SNP rs200111236, 1 case of SNP rs200729823, 6 cases of rs3216174. In addition, 1 case of c.1024C〉T mutation was found. In control group, we only found 4 cases of haplotype c.1311C〉T/IVSll 93T〉C. Differences between the two groups have statistical significance （χ2=4.86, P〈0.05） . Conclusion： G6PD gene SNP loci exist a higher frequency in early stage of unexplained abortion villus tissues. So G6PD gene can not be ignored in the early embryonic development.