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Influence of Marker Heterozygosity and Genetic Heterogeneity on Fine Mapping
Author(s) -
Heard-Costa Nancy L.,
Demissie Serkalem,
DeStefano Anita L.,
Knowlton Beth A.,
Maher Nancy E.,
Myers Richard H.,
Volcjak Jeanine S.,
Wilk Jemma B.,
Cupples L. Adrienne
Publication year - 2001
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.2001.21.s1.s467
Subject(s) - loss of heterozygosity , microsatellite , biology , genetics , gene mapping , population , evolutionary biology , genetic marker , computational biology , gene , allele , medicine , environmental health , chromosome
The purpose of the current study was to utilize the Genetic Analysis Workshop 12 simulated data to evaluate fine‐mapping strategies for quantitative traits. We approached the analysis as if it was a follow‐up to a genome scan that had identified two regions of interest and used the provided 1‐cM density microsatellite typing data to mimic fine mapping of these regions. As these investigators knew the true locations of the putative genes under study, we explored the effects of the informativeness of microsatellite markers (marker heterozygosity) and the effects of genetic heterogeneity across families for ten replicates of the data. These results shed a cautionary light on the reliability of fine‐mapping efforts on refining mapping locations as the position and the strength of the lod score can be markedly affected by the sampling of the population, the amount of variation accounted for by the gene, and the informativeness of the marker. Our studies did not reveal a large effect of unlinked families on the shape of the lod score peak. © 2001 Wiley‐Liss, Inc.