Overview of linkage analysis in complex traits.
Overview of linkage analysis in complex traits.
复制标题
DOI：
10.1002/0471142905.hg0109s64
复制
发表时间：
2010-01-01
影响因子：
--
通讯作者：
Haines, Jonathan
中科院分区：
文献类型：
--
作者：
Bush, William S;Haines, Jonathan
连锁分析是一种成熟且强大的绘制疾病基因图谱的方法。虽然连锁分析在应用于具有明确孟德尔遗传模式的疾病时最为成功，但它也可以成为绘制常见复杂疾病易感基因图谱的有用技术。在本单元中，我们概述了复杂疾病的关键概念，以及复杂性状的连锁分析与简单孟德尔性状的区别。最佳的遗传学研究需要仔细的研究设计、确定策略和分析方法。我们描述了在收集数据之前应如何考虑患病率、遗传力估计和遗传模式等疾病参数。此外，我们概述了对复杂疾病进行连锁分析的一般战略方法，以及可以优化统计能力以检测疾病位点并总体提高研究质量的一些设计考虑因素。最后，我们讨论了连锁分析与全基因组关联研究相比的优点和缺点。
Linkage analysis is a well-established and powerful method for mapping disease genes. While linkage analysis has been most successful when applied to disorders with clear patterns of Mendelian inheritance, it can also be a useful technique for mapping susceptibility genes for common complex diseases. In this unit, we outline the key concepts of complex disease, and how linkage analysis for complex traits differs from simple Mendelian traits. Optimal genetic studies require careful study design, ascertainment strategy, and analysis methods. We describe how disease parameters such as prevalence, heritability estimates, and mode of inheritance should be considered before data is collected. Furthermore, we outline a general strategic approach for conducting linkage analysis of a complex disease, along with several design considerations that can optimize statistical power to detect disease loci and generally improve the quality of a study. Finally, we discuss the benefits and weaknesses of linkage analysis in contrast to genome-wide association studies.