在GAW12遗传隔离群体模拟数据中，使用亲子三联体检测连锁不平衡的新方法与现有方法的比较。

Comparison of novel and existing methods for detection of linkage disequilibrium using parent-child trios in the GAW12 genetic isolate simulated data.

作者信息

Bailey-Wilson J E, Sorant A J, Malley J D, Presciuttini S, Redner R A, Severini T A, Badner J A, Pajevic S, Jufer R, Baffoe-Bonnie A, Kao L, Doan B Q, Goldstein J L, Holmes T N, Behneman D, Mandal D M, Turley T N, Weissbecker K A, O'Neill J, Pugh E W

机构信息

NIH/NHGRI, 333 Cassell Drive, Suite 2000, Baltimore, MD 21224, USA.

出版信息

Genet Epidemiol. 2001;21 Suppl 1:S378-83. doi: 10.1002/gepi.2001.21.s1.s378.

DOI:10.1002/gepi.2001.21.s1.s378

PMID:11793703

Abstract

A novel method for joint detection of association caused by linkage disequilibrium (LD) and estimation of both recombination fraction and linkage disequilibrium parameters was compared to several existing implementations of the transmission/disequilibrium test (TDT) and modifications of the TDT in the simulated genetic isolate data from Genetic Analysis Workshop 12. The first completely genotyped trio of affected child and parents was selected from each family in each replicate so that the TDT tests are valid tests of linkage and association, rather than being only valid as tests for linkage. In general, power to detect LD using the genome-wide scan markers was inadequate in the individual replicate samples, but the power was better when analyzing several SNP markers in candidate gene 1.

摘要

在遗传分析研讨会12的模拟遗传隔离数据中，将一种用于联合检测连锁不平衡（LD）引起的关联以及估计重组率和连锁不平衡参数的新方法，与几种现有的传递/不平衡检验（TDT）实现方法以及TDT的改进方法进行了比较。在每个重复中，从每个家庭中选择受影响儿童及其父母的第一个完全基因分型三联体，以使TDT检验成为有效的连锁和关联检验，而不仅仅是有效的连锁检验。一般来说，在单个重复样本中，使用全基因组扫描标记检测LD的能力不足，但在分析候选基因1中的几个单核苷酸多态性（SNP）标记时，能力更强。