摘要
应用聚合酶链反应（ＰＣＲ）扩增４２例东北地区正常人Ｓｔ１４（ＤＸＳ５２）位点ＶＮＴＲ多态，共检出８种等位基因片段。最长扩增片段为２．４ｋｂ。频率最高的扩增片段为７００ｂｐ，约占５０％。检测的女性杂合子率较高。利用此ＶＮＴＲ多态作为遗传标记，对３个甲型血友病家系进行了基因连锁分析，在一个家系中确定了一名女性为正常人，非携带者；在另二个家系中各检出一名男性胎儿患者。
e analysed polymorphism of St14 (DXS52) VNTR in nomol individuals in Northeasten Region Using PCR method and detected 8 alleles. The longest fragment was 2.4 kb. The amplified fragments with the highest frequency were 700 bp, which accounted for about 50%. The proportion of detected heterozygosity in femals was relatively high. We performed gene diagnosis in 3 families with hemophilia A using this VNTR polymorphism. In one family, a female was determained to be a normal individual rather than a carrier. In other 2 families 2 male fetuses were determined as patients.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
1997年第6期554-556,共3页
Journal of China Medical University
关键词
血友病
甲型血友病
基因诊断
VNTR
PCR
variable number of tandem repeat (VNTR)
polymerase chain reaction
hemophilia A
gene diagnosis
