广东地区汉族人群St14/Taq Ⅰ RFLPs及其在甲型血友病基因连锁分析中的应用  

St14/Taq Ⅰ RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLPs) IN CANTONESE AND ITS LINKAGE ANALYSIS FOR HEMOPHILIA A GENE

作　　者：何小平[1] 杜传书[1] 曾瑞萍[1] 胡彬[1] 邱洛琳[2] 周熙琳 金顺明[3] 

机构地区：[1]中山医科大学医学遗传学教研室 [2]广州市妇婴医院遗传室 [3]广州市儿童医院血液室

出　　处：《遗传与疾病》1991年第2期68-70,126+132,共3页

摘　　要：作者对人体基因组DNA用TaqⅠ酶切,St14-1探针检测,Sauthern印迹分子杂交图谱存在两个多态体系。我们分析广东地区汉族人群中27个甲型血友病家系的St14/TaqⅠ RFLPs,53条无遗传关系的X染色体中,第1多态体系存在的等位基因及其频率为:等位基因4(13.2%),等位基因5～6(9.4%),等位基因7(28.3%),等位基因8(49.1%);第2多态体系的基因频率为:50.9%(α),49.1%(β)。用St14/TaqⅠ RFLPs连锁分析,成功地进行了1例甲型血友病基因携带者检测和1例甲型血友病基因产前诊断。St14/Taq Ⅰ RELPs contains two polymorphic systems and is closely linked to FⅧ: C gene. System Ⅰ comprises eight alleles (allele 1-8) at least, and system Ⅱ comprises two alleles (a and β) . We studied 53 unrelated X chromosomes from 27 hemophilia A families in Guangdong China. In system Ⅰ, we observed allele 4 (13.2%), alleles 5, 6 (9.4%), allele 7 (28.3%) and allele 8 (49.1%) . In system Ⅱ, the frequencies of alleles α and β were 50.9% and 49.1% respectively. We have successfully carried out one carrier detection and one prenatal diagnosis for hemophilia A families by use of the St14/Taq Ⅰ RFLPs linkage analysis.

关 键 词：血友病 RFLP 产前诊断 

分 类 号：R554.104[医药卫生—血液循环系统疾病]