【摘要】 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。更多还原

【Abstract】 Objective To evaluate the applicability of X-specific short tandem repeats (X-STRs) in identification of fetal cells, the fetal sex and the common sex chromosome aneuploidy in noninvasive prenatal diagnosis. Methods Thirty-three peripheral blood samples were obtained from pregnant women. Fetal nucleated erythrocytes were discerned with heamoglobin γ chain staining and separated under microscopy. After primer extension preamplification (PEP), two X-STRs (DXS101, DXS6797) and AMXY gene were amplificated. Fetal sex was judged by comparing the genotype of fetus with that of its parents. Results Fetal nucleated red blood cells were separated from all samples. In each case, fetal sex was accurately diagnosed by analyzing DXS101, DXS6797 and AMXY gene, with a coincidence rate of 100%. A fetus with Turner′s syndrome was also diagnosed with this noninvasive technique successfully. Conclusion Amplification of X-STRs and AMXY gene can accurately detect fetal sex and common sex chromosome aneuploidy. This procedure is rapid and cheap, and can be used for discerning both male fetus and female fetus with a wide perspective of development.更多还原