甲型血友病产前基因诊断

Prenatal Diagnosis of Hemophilia A by DNA analysis

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。

Haemophilia A is a commonly inherited disease of blood coagulation. The disorder is caused by deficiency in gene for factor Ⅷ and inherited as an X-linked trait. By use of cloned factor Ⅷ DNA fragment as probe, Bcl Ⅰ restriction fragment length polymorphism (RFLP) located within the factor Ⅷ gene was studied, with which prenatal diagnosis of a case at high risk of haemophilia A was made successfully.