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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。
Objective To summarize and discuss the research progress of linkage analysis in the diagnosis of hemophilia methionine in recent years and to provide a favorable reference for the selection of a linkage analysis site for hemophilia A. Methods The main database resources, query ScienceDirect, pubmed and other databases on hemophilia A chain analysis and other aspects of the research data. Results A total of many articles were collected and 16 of them were selected to summarize and discuss. Conclusions Linkage analysis is now widely used all over the world. It is a simple, quick and practical method to detect and prenatal diagnosis of hemophilia A carriers. However, there are still some limitations. For example, some polymorphic markers do not provide diagnostic information. For some sporadic cases, linkage analysis may not be effective. For extra-genetic polymorphism markers, recombination of genes during meiosis can lead to linkage analysis errors. Therefore, we must find more effective genetic polymorphism markers for hemophilia A linkage analysis.