Wu G
Institute of Basic Medical Sciences, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1991 Dec;13(6):428-34.
Hemophilia A caused by defect in the gene of factor VIII is an inherited bleeding disorder most commonly seen in man. Prenatal diagnosis and carrier detection of hemophilia have been done through RFLP analysis in recent years. By use of Bc1I/FVIII-i18, XbaI/FVIII-i22, Bc1I/St14, TaqI/St14 and Bg1II/DX 13 RFLP analysis, prenatal diagnosis of 16 cases at risk of hemophilia A were performed. The results of gene diagnosis showed that two out of 16 pregnant women were normal and therefore prenatal diagnosis was not needed. Among the 14 fetuses at risk four normals and 4 carriers were found in the 8 female fetuses, while in the 6 male fetuses 3 were identified as normal and 3 affected.
由因子 VIII 基因缺陷引起的甲型血友病是一种遗传性出血性疾病，多见于男性。近年来已通过限制性片段长度多态性（RFLP）分析进行甲型血友病的产前诊断和携带者检测。利用 Bc1I/FVIII-i18、XbaI/FVIII-i22、Bc1I/St14、TaqI/St14 和 Bg1II/DX 13 RFLP 分析，对 16 例有甲型血友病风险的病例进行了产前诊断。基因诊断结果显示，16 名孕妇中有 2 名正常，因此无需进行产前诊断。在 14 名有风险的胎儿中，8 名女性胎儿中有 4 名正常和 4 名携带者，而在 6 名男性胎儿中，3 名被鉴定为正常，3 名患病。
