【摘要】 本文报告16例有甲型血友病患儿生育史或家族史的孕妇及其胎儿的基因连锁分析结果。16位孕妇中2人经基因诊断不携带血友病基因;1人不排除携带状态,但其女性胎儿可诊断为正常。其余13例胎儿中女性7例,4例为携带者,3例正常;男性6例,3例患儿,3例正常。更多还原

【Abstract】 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 BclI/FⅧ-i18, XbaI/FⅧ-i22, BclI/Stl4, TaqI/St14 and Bg1II/DX 13 RFLP analysis, prenatal diagnosis of 16 cases at risk of hemophilia A wers 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.更多还原