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一例有血友病B家族史的29岁孕妇,于妊娠8周时要求对胎儿进行诊断。凝血因子的检查结果表明孕妇及其母亲是血友病B携带者,其弟弟是血友病B患者。应用凝血因子Ⅸ基因探针对该家系成员进行DNA限制性内切酶酶谱分析,鉴定出缺陷的因子Ⅸ基因特异的DNA片段。绒毛DNA用Y-特异DNA探针杂交证明胎儿是男性,用因子Ⅸ基因探针分析发现胎儿通过遗传获得这种特异的DNA片段。据此产前诊断出本例胎儿为血友病B患者。人流手术后,通过对流产胎儿的凝血因子检查和DNA分析,证实产前基因诊断正确。
A 29-year-old pregnant woman with a family history of hemophilia B asks for a diagnosis of the fetus at 8 weeks gestation. The clotting factor test results show that pregnant women and their mothers are carriers of hemophilia B and their younger brother is hemophilia B patients. The members of this pedigree were subjected to DNA restriction endonuclease profiling using the Factor IX probe to identify defective DNA fragments of the Factor IX gene. Fluff DNA using Y-specific DNA probe hybridization shows that the fetus is a male, with factor IX gene probe analysis found that the fetus obtained by genetic this specific DNA fragment. According to this prenatal diagnosis of this case of fetal hemophilia B fetus. After abortion, clotting factor tests and DNA analysis of the aborted fetus confirm that the prenatal gene is correctly diagnosed.