联合运用St14(DXS52)位点VNTR和FⅧ基因内的(CA)n重复多态性诊断甲型血友病  

Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FⅧ gene

作　　者：钟昌高[1] 李麓芸[1] 卢光琇[1] 

机构地区：[1]中南大学生殖与干细胞工程研究所

出　　处：《中华医学遗传学杂志》2004年第1期80-82,共3页Chinese Journal of Medical Genetics

基　　金：湖南省社会发展科技项目基金 (1 0 1 3- 8)~~

摘　　要：目的　提高甲型血友病 (hemophilia A,HA)家系成员基因诊断及产前基因诊断的准确性和可诊断率。方法　采用 St14 (DXS5 2 )位点的可变串联重复序列和 F 基因第 13内含子的 (CA) n重复多态性连锁分析对 HA家系进行间接基因诊断。结果　单用上述 2个多态位点中的 1个对 9个 HA家系进行连锁分析 ,可诊断率均为 6 6 .7% ,联合 2个多态位点 ,可诊断率则提高到 88.9% ,完成了 4个家系的产前基因诊断 ,并监测到 1例单用 St14位点的可变串联重复序列多态连锁分析可能发生的产前诊断的误诊。结论联合采用上述 2个多态位点可以对近 90 %的 HA家系作出快速、准确的基因诊断和产前基因诊断。ObjectiveTo improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families. MethodsLinkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor Ⅷ gene among HA families for indirect diagnosis. ResultsThe diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored. ConclusionThe rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.

关 键 词：St14(DXS52)位点 VNTR FⅧ基因 (CA)n重复多态性 诊断 甲型血友病 

分 类 号：R556[医药卫生—血液循环系统疾病]