摘要
对5个甲型血友病家系,24名成员进行了基因诊断。应用Bcl I/I14-E18检测家系C及D的携带者分别为3.0kb/2.3kb及3.3kb/2.3kb杂合体,可以Bcl I/I14-E18限制性酶切片段长度多态性(RFLPs)连锁分析作基因诊断。对1名携带者孕妇抽取绒毛组织进行DNA分析,以BglⅡ/DX13作RFLPs连锁分析,孕妇为5.8kb/2.8kb杂合子,胎儿为2.8kb/一半合子,PY3.4(+),故胎儿为甲型血友病患者,建议终止妊娠。
Twenty-four individuals of five haemophilia A families were successfully diagnosed with RFLP linkage analysis. Detecting with the Ⅰ 14-E18, we found the carriers of family A and B were not heterozygotes of Bcl Ⅰ RFLP. They were homozygotes of 3.0kb/3.0kb and 2.3kb/2.3kb respectively, while the carriers of family C and D were heterozygotes of 3.0kb/2.3kb and 3.3kb/2.3kb respectively. So gene diagnosis could be made with Bcl Ⅰ RFLP in family C and D. In family D, pathologic gene was linked to 3.3kb band. With Bgl Ⅱ/DX13, we made a RFLP linkage analysis of haemophilia A fetus at the early pregnant. period, whose mother was heterozygote of 5.8kb/2.8kb. The fetus was a case of 2.8kb/-(PY3.41+), and hence a patient with haemophilia A. Therefore an induced abortion was suggested.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第5期276-278,T019,共4页
Chinese Journal of Medical Genetics
关键词
基因诊断
甲型
血友病
产前诊断
Thromboplastin Gene diagnosis Restriction fragment length polymorphism
