Sekine M, Tanaka K
Department of Obstetrics and Gynecology, Niigata University School of Medicine.
Nihon Rinsho. 2000 Jun;58(6):1206-10.
The genes responsible for hereditary cancers such as retinoblastoma, colorectal cancer and breast cancer have been identified through application of positional cloning from human molecular genetics. Linkage analysis is a powerful method to locate a disease gene, however a precise genetic model, detailing the mode of inheritance, gene frequencies and penetrance, is required for parametric methods, but not for nonparametric methods. The nonparametric methods ignores unaffected people, and looks for alleles that are shared by affected individuals within nuclear families as well as extended families. Hence the methods usually have been performed to identify disease genes in many hereditary diseases. In this paper, we describe the rationale and strategy of linkage analysis in detail for genetic mapping of hereditary cancers.
通过应用人类分子遗传学中的定位克隆技术，已鉴定出与视网膜母细胞瘤、结直肠癌和乳腺癌等遗传性癌症相关的基因。连锁分析是定位疾病基因的有力方法，然而，参数方法需要精确的遗传模型，详细说明遗传模式、基因频率和外显率，而非参数方法则不需要。非参数方法忽略未受影响的个体，寻找核心家庭以及大家庭中受影响个体共享的等位基因。因此，这些方法通常用于鉴定许多遗传性疾病中的疾病基因。在本文中，我们详细描述了连锁分析用于遗传性癌症基因定位的基本原理和策略。
