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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 investigate the relationship between G6PD gene and abortion of unknown origin. Methods G6PD gene sequencing was performed on 56 cases of abortion villus specimens and 30 cases of normal villus specimens. Results 19 (33.9%) SNPs were found in the G6PD gene sequencing results of the experimental group, of which 11 (19.6%) were c.1311C> T / 93T> C haplotypes, 6 (10.7%) were rs3216174 and 1 1.8%) were rs200111236, and 1 case (1.8%) was rs200729823. One case (1.8%) was found to have the missense mutation c.1024C> T. Only 4 SNPs (13.3%) were found in the control group G6PD gene sequencing results, all of which were c.1311C> T / 93T> C haplotype. There was a significant difference in SNP frequency between the two groups (χ2 = 4.86, P <0.05). Conclusion There is a high frequency of SNP sites in G6PD gene in early villus of unexplained abortion. It is speculated that G6PD gene has certain clinical effect in early embryo development.