妊娠期糖尿病孕妇外周血胎儿游离DNA检测及其临床意义

目的通过检测妊娠期糖尿病孕妇外周血胎儿游离DNA浓度变化,分析基因表达水平是否正常,为诊断和阐明妊娠期糖尿病及其遗传效应提供理论依据。方法用血浆基因组DNA磁珠法抽提12~25周孕早中期孕妇外周血中胎儿游离DNA,妊娠期糖尿病组和健康对照组各15例,通过高通量测序检测孕妇胎儿染色体基因拷贝数及评估其风险值。结果与健康对照组比较,妊娠期糖尿病组的孕妇胎儿游离DNA文库浓度差异无统计学意义(P>0.05),染色体基因拷贝数无显著变化,但个别存在18号染色体基因微重复,可能与妊娠期糖尿病基因表达异常相关。结论对妊娠期糖尿病孕妇外周血胎儿游离DNA检测,将有助于进一步研究妊娠期糖尿病形成的分子机制及其临床诊断。

Detection of fetal free DNA in peripheral blood of pregnant women with gestational diabetes mellitus and its clinical significance

Objective To provide a theoretical basis for the diagnosis and elucidation of gestational diabetes mellitus and its genetic effect,the changes of fetal free DNA concentration in peripheral blood of pregnant women with gestational diabetes mellitus were detected and the level of gene expression was analyzed.Methods The fetal free DNA was extracted from the peripheral blood of 12-25 week pregnant women in the early and middle stages by the method of plasma genomic DNA magnetic beads.There were 15 cases in the gestational diabetes mellitus group and 15 cases in the control group.High throughput sequencing was used to detect the copy number of fetal chromosome genes and evaluate the risk value.Results Compared with the healthy control group,there was no significant difference in the concentration of fetal free DNA library among pregnant women with gestational diabetes mellitus(P>0.05).There was no significant change in the number of copies of chromosome genes,but some of them had microduplication of chromosome 18,which may be related to the abnormal gene expression of gestational diabetes.Conclusion The detection of fetal free DNA in peripheral blood of pregnant women with gestational diabetes will be helpful to further study the molecular mechanism of gestational diabetes and its clinical diagnosis.