摘要
血友病A是人类最常见的遗传性出血性疾病,大约10,000名出生男婴中有一人受累。病因是凝血第Ⅷ因子基因缺陷。我们用与FⅧ基因紧密连锁的一段基因外DNA克隆St14为基因探针对FⅧ基因的TaqⅠ多态性进行了研究。利用这一多态性为遗传标志,成功地进行了一例血友病A高危胎儿的产前基因诊断。
Haemophilia A is one of the most common severe hereditary hemorrhagic disorders with an incidence rate of about 1,/10,000 among male neonates. It is caused by a deficiency of factor Ⅷ. The gene is located at the distal end of the long arm of the human X-chromosome(Xq28). A prenatal diagnosis of a case at high risk of haemophilia A was made successfully using a probe closaly linked to the factor Ⅷ gene.
出处
《南京铁道医学院学报》
1991年第1期9-12,共4页
Journal of Nanjing Railway Medical College
关键词
血友病
RFLPS
产前诊断
haemophilia
restriction fragment length polymorphism
genetic marker
prenatal diagnosis
