血友病A家系ST14位点多态性检测及分析

Detection and analysis of polymorphism of ST14 site in hemophilia A patients and their family

目的探讨提高血友病A患者及家系成员的基因诊断及携带者检出诊断率的途径。方法对3个血友病A家系17例进行ST14可变数目串联重复序列多态位点检测。结果 ST14位点等位基因片段介于700～1700bp,以700bp最多,占39%,杂合率为88%。2个血友病A家系可以用该位点提供诊断信息。结论 ST14多态位点用于血友病A携带者检测是一个特异性高、信息量大的分子诊断标志。

Objective To explore for an approach that improves the gene diagnosis and carrier detection rates for hemophilia A patients and their family members. Methods Polymorphism detection of ST14 variable number tandem repeats （VNTR） was performed in 3 hemophilia A families, with 17 cases in total. Result At ST14 VNTR, allelic fragments ranged from 700 to 1700 bp in size, and mostly at 700 bp, counting for 39%, and the heterozygosity rate was 88%. Diagnosis information of 2 families was made according to this site. Conclusion ST14 polymorphic site is a molecular diagnosis marker with high specificity and vast information in carrier detection of hemophilia A.