The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus.

ABSTRACT: Haplotype analysis has become increasingly important for the study of human disease as well as for reconstruction of human population histories. Computer programs have been developed to estimate haplotype frequencies statistically from marker phenotypes in unrelated individuals. However, there currently are few empirical reports on the accuracy of statistical estimates that must infer linkage phase. We have analyzed haplotypes at the CD4 locus on chromosome 12 that consist of a short tandem-repeat polymorphism and an Alu insertion/deletion polymorphism located 9.8 kb apart, in 398 individuals from 10 geographically diverse sub-Saharan African populations. Haplotype frequency estimates obtained using gene counting based on molecularly haplotyped (phase-known) data were compared with haploty

SUBMITTER: Tishkoff SA 

PROVIDER: S-EPMC1287198 | biostudies-literature | 2000 Aug

REPOSITORIES: biostudies-literature