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目的:探讨1种相对便捷、准确、经济的适用于杂合型SNP位点的无创性产前检测胎儿唐氏综合征的方法。方法:选择50例孕整倍体胎儿(孕15~21周)、13例孕21三体胎儿(孕19~26周)的母血浆样本,应用Multiple-SNaPshot法检测胎盘源性PLAC4基因上5个SNP等位基因的基因比率及其杂合性,从而对杂合型SNP位点的胎儿无创性产前检测唐氏综合征;同时对我国苏南地区200例人群的5个SNP位点进行基因型别研究。结果:从63例单胎孕妇外周血中成功提取到PLAC4 mRNA,检测出17例PLAC4上为杂合型SNP的样本,通过分析SNP等位基因比率检测出14例正常整倍体胎儿及3例21三体胎儿。苏南地区人群PLAC4上Rs8130833和Rs4818219位点的杂合度分别为0.278和0.343。结论:对PLAC4基因上为杂合型SNP位点的胎儿,用Multiple-SNaPshot法检测其等位基因比率可用于无创性产前筛查唐氏综合征。苏南地区人群PLAC4基因上SNP杂合度较高的位点有Rs8130833和Rs4818219。
OBJECTIVE: To explore a non-invasive prenatal method for the detection of fetal Down’s syndrome with heterozygous SNP loci that is relatively convenient, accurate and economical. Methods: The plasma samples from 50 pregnant fetus (15-21 weeks old) and 13 trisomy 21 (19-19 weeks old) were collected. The placenta-derived PLAC4 gene 5 SNP alleles and their heterozygosity, so that heterozygous SNP loci noninvasive prenatal detection of Down’s syndrome; at the same time on the southern part of Jiangsu Province, 200 cases of five SNP sites Genotyping studies. RESULTS: PLAC4 mRNA was successfully extracted from peripheral blood of 63 singleton pregnant women and 17 heterozygous SNPs were detected on PLAC4. Fourteen normal eumyloid fetuses and three cases of normal eumyloid fetuses were detected by analyzing the SNP allele ratio 21 trisomy. The heterozygosities of Rs8130833 and Rs4818219 on PLAC4 in southern Jiangsu were 0.278 and 0.343, respectively. Conclusions: Fetuses with heterozygous SNP loci on PLAC4 gene can be used to detect non-invasive prenatal screening for Down’s syndrome by Multiple-SNaPshot method. There were Rs8130833 and Rs4818219 in the SNP heterozygosity sites of PLAC4 gene in southern Jiangsu province.