Mueller Jakob C
National Centre for Genetic Epidemiological Methods, Institute for Human Genetics, GSF-National Research Institute for Environment and Health, 85764 Neuherberg, Germany.
Brief Bioinform. 2004 Dec;5(4):355-64. doi: 10.1093/bib/5.4.355.
Assessing the patterns of linkage disequilibrium (LD) has become an important issue in both evolutionary biology and medical genetics since the rapid accumulation of densely spaced DNA sequence variation data in several organisms. LD deals with the correlation of genetic variation at two or more loci or sites in the genome within a given population. There are a variety of LD measures which range from traditional pairwise LD measures such as D' or r2 to entropy-based multi-locus measures or haplotype-specific approaches. Understanding the evolutionary forces (in particular recombination) that generate the observed variation of LD patterns across genomic regions is addressed by model-based LD analysis. Marker type and its allelic composition also influence the observed LD pattern, microsatellites having a greater power to detect LD in population isolates than SNPs. This review aims to explain basic LD measures and their application properties.
自从几种生物中密集排列的DNA序列变异数据迅速积累以来，评估连锁不平衡（LD）模式已成为进化生物学和医学遗传学中的一个重要问题。LD涉及给定群体中基因组内两个或更多位点或位置的遗传变异的相关性。有多种LD测量方法，范围从传统的成对LD测量方法如D'或r2到基于熵的多位点测量方法或单倍型特异性方法。基于模型的LD分析解决了理解产生基因组区域间观察到的LD模式变异的进化力量（特别是重组）这一问题。标记类型及其等位基因组成也会影响观察到的LD模式，微卫星在群体隔离物中检测LD的能力比单核苷酸多态性（SNP）更强。本综述旨在解释基本的LD测量方法及其应用特性。
