摘要
目的探讨提高运用DNA多态性连锁分析对血友病A携带者进行筛查及产前诊断检出率的途径。方法对3个血友病A家系的成员进行BclⅠ、St14VNTR、Intro13(CA)n和DXS15 4个位点的连锁分析。结果家系a中II7的BclⅠ位点和Intro13(CA)n位点均呈纯合状态,无信息;St14VNTR和DXS15的连锁分析显示III6为携带者,通过对BclⅠ的进一步分析显示胎儿为患儿的可能性大。家系b中II1的BclⅠ位点和St14VNTR多态位点为纯合状态,无信息;联合应用Intro13(CA)n和DXS15进行连锁分析显示II1为携带者,胎儿为正常女性。家系c中St14VNTR、Intro13(CA)n以及DXS15位点在II4均为纯合状态,BclⅠ位点为杂合状态,连锁分析显示胎儿为正常男性可能性较大。结论联合应用多个遗传多态性位点可以提高血友病A的诊断率和携带者分析的正确率。
Objective To explore the methods which can improve the rate of screening and prenatal diagnosis detection for haemophilia A carrier by DNA polymorphism linkage analysis. Methods Linkage analysis of Bcl I , St14 various number tandem repeat（ VNTR）, Introl3 （CA）n and DXS15 in three haemophilia A pedigrees were performed. Results Bcl I and Intro13 （CA） n of 117 in pedigree a were homogeneous. The linkage analysis of St14VNTR and DXS15 indicated that III6 was a cartier, and further linkage analysis of Bcl I was carried, the fetal was a patient. Bcl I and St14VNTR of II1 in pedigree b were homogeneous. Linkage analysis of the Intro13 （CA）n and DXS15 showed that the fetal was a normal female. St14VNTR, Intro13 （CA） n and DXS15 of II4 in pedigree c were homogeneous,and linkage analysis of Bcl I was heterozygous,the fetal was a normal male. Conclusion Combined application of multiple genetic polymorphisms can improve the diagnose rate of hemophilia A and accuracy rate of cartier analysis.
出处
《新乡医学院学报》
CAS
2010年第2期114-116,共3页
Journal of Xinxiang Medical University
基金
郑州科技攻关基金资助项目(编号:04BA60ABYC01)
关键词
血友病A
多态性
连锁分析
hemophilia A
polymorphism
linkage analysis
