连锁分析在血友病甲基因诊断中的应用

目的综述及讨论近几年以来连锁分析在血友病甲基因诊断中的应用的研究进展，为血友病甲连锁分析位点的选择提供有利的参考。方法以网络数据库资源为主，查询ScienceDirect，pubmed等数据库关于血友病甲连锁分析研究进展等方面的资料。结果共收集到多篇文献，选择其中16篇进行归纳总结与讨论。结论连锁分析现在在世界范围内都应用广泛，对血友病甲携带者的检出与产前诊断不失为一种简便、快捷实用的方法。但是依然有其局限性，比如，有些多态性标记并不能提供诊断信息，对于一些散发病例，连锁分析则不一定有效。对于基因外的多态性标记，细胞减数分裂期间基因重组会导致连锁分析错误。因此，有待发现更多有效的遗传多态性标记用于血友病甲的连锁分析。

The application of linkage analysis in genetic diagnosis of hemophilia A

Objective ： To summarize and discuss the progress of linkage analysis in genetic diagnosis of hemophilia A, assisting in the selection of DNA markers for linkage analysis of hemophilia A. Methods： Based on the database of ScienceDirect and Pubmed, searching for the thesis on linkage analysis of hemophilia A. Results： A great deal of related articles were found and only 16 of them were selected for discussion and summary. Conclusion： Linkage analysis is now available world - wide, which has become a simple and practical method for detection and prenatal diagnosis of hemophilia A carrier. But it has several limitations, including those resulting from non - informative polymorphisms. In some sporadic cases, linkage analysis is not necessarily effective. For extragenic markers, a major risk is the possibility of crossover during meiosis. Thus, more effective DNA markers are needed to be found for linkage analysis of hemophilia A .