Vens Maren, Ziegler Andreas
Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität zu Lübeck, Lübeck, Germany.
Methods Mol Biol. 2012;850:103-17. doi: 10.1007/978-1-61779-555-8_7.
Gametic phase disequilibrium (GPD) is the nonrandom association of alleles within gametes. Linkage disequilibrium (LD) describes the special case of deviation from independence between alleles at two linked genetic loci. Estimation of allelic LD requires knowledge of haplotypes. Genotype-based LD measures dispense with the haplotype estimation step and avoid bias in LD estimation. In this chapter, the most important measures for allelic and genotypic LD are introduced. The use of software packages for LD estimation is illustrated.
配子相不平衡（GPD）是配子内等位基因的非随机关联。连锁不平衡（LD）描述了两个连锁基因座上等位基因之间偏离独立性的特殊情况。等位基因LD的估计需要单倍型知识。基于基因型的LD度量省去了单倍型估计步骤并避免了LD估计中的偏差。在本章中，将介绍等位基因和基因型LD的最重要度量。还说明了使用软件包进行LD估计。
