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目的探索X染色体短串联重复序列(STR)在无创性产前诊断中用于胎儿细胞鉴定、性别判断及遗传病诊断的可行性。方法33名孕妇外周血,以血红蛋白γ链染色结合显微操作分离获取胎儿有核红细胞,经引物延伸预扩增技术扩增细胞基因组后,对2个X-STR位点DXS101、DXS6797及AMXY基因进行扩增。胎儿及其双亲的基因型对比分析。结果各孕妇外周血中均分选出胎儿细胞。联用DXS101、DXS6797及AMXY基因对胎儿细胞鉴定及性别判断的准确率达100%,并成功诊断了一例Turner′s综合征胎儿。结论采用多个X-STR位点及AMXY基因扩增作为母血中胎源细胞鉴定系统,不局限于男胎,可准确判断胎儿性别及常见性染色体异常。
Objective To explore the feasibility of using X chromosome short tandem repeat (STR) in the diagnosis of fetal cell, sex determination and genetic disease in noninvasive prenatal diagnosis. Methods The peripheral blood of 33 pregnant women was collected. The fetal nucleated erythrocytes were isolated by hemoglobin γ chain staining and micromanipulation. The genomes of the cells were amplified by primer extension preamplification. The two DXS101, DXS6797 and AMXY genes For amplification. Genotype comparison of fetus and its parents. Results All pregnant women in the peripheral blood were sorted out fetal cells. In combination with DXS101, DXS6797 and AMXY genes, the accuracy of fetal cell identification and sex determination was 100%, and one Turner’s syndrome fetus was successfully diagnosed. Conclusion Multiple x-STR loci and AMXY gene amplification as the identification system of fetal cells in maternal blood are not limited to male fetuses. Accurate determination of fetal sex and common chromosomal abnormalities can be performed.