Rogers J, Mahaney M C, Almasy L, Comuzzie A G, Blangero J
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78245, USA.
Am J Phys Anthropol. 1999;Suppl 29:127-51. doi: 10.1002/(sici)1096-8644(1999)110:29+<127::aid-ajpa5>3.0.co;2-t.
Recent years have seen rapid progress in several areas of both biomedical and anthropological genetics. While genetic analyses have come to play a significant role in biological anthropology, there has been little use of modern methods for linkage mapping of quantitative trait loci (QTLs). It is now feasible to design research studies to investigate the quantitative genetics of complex phenotypes that are of primary importance to traditional questions in biological anthropology. Complex traits such as functionally significant morphological features, physiological characteristics or aspects of behavior can be examined to estimate the influence of genetic variation on within-species phenotypic variation. In addition, new methods for mapping quantitative trait loci provide opportunities to identify the regions within chromosomes that contain the functional genes of interest. This review summarizes molecular genetic and statistical genetic approaches to QTL mapping, and presents examples of how this approach can expand the scope of anthropological genetics to include mapping and identifying individual genes that influence complex phenotypic traits relevant to fundamental questions in biological anthropology.
近年来，生物医学遗传学和人类遗传学的多个领域都取得了迅速进展。虽然基因分析在生物人类学中已开始发挥重要作用，但现代方法在数量性状基因座（QTL）连锁图谱绘制方面的应用却很少。现在设计研究来调查对生物人类学传统问题至关重要的复杂表型的数量遗传学是可行的。诸如具有功能意义的形态特征、生理特征或行为方面等复杂性状可以进行研究，以估计遗传变异对物种内表型变异的影响。此外，绘制数量性状基因座的新方法为识别染色体上包含感兴趣功能基因的区域提供了机会。本综述总结了QTL图谱绘制的分子遗传学和统计遗传学方法，并举例说明了这种方法如何能够扩大人类遗传学的范围，包括绘制和识别影响与生物人类学基本问题相关的复杂表型性状的单个基因。
