Journal article
Pitfalls in homozygosity mapping
American Journal of Human Genetics, Vol.67(5), pp.1348-1351
2000
DOI: 10.1016/S0002-9297(07)62966-8
PMID: 11007652
Abstract
There is much interest in use of identity-by-descent (IBD) methods to map genes, both in Mendelian and in complex disorders. Homozygosity mapping provides a rapid means of mapping autosomal recessive genes in consanguineous families by identifying chromosomal regions that show homozygous IBD segments in pooled samples. In this report, we point out some potential pitfalls that arose during the course of homozygosity mapping of the enhanced S-cone syndrome gene, resulting from (1) unexpected allelic heterogeneity, so that the region containing the disease locus was missed as a result of pooling; (2) identification of a homozygous IBD region unrelated to the disease locus; and (3) the potential for inflation of LOD scores as a result of underestimation of the extent of inbreeding, which Broman and Weber suggest may be quite common.
Details
- Title: Subtitle
- Pitfalls in homozygosity mapping
- Creators
- Maria G MianoAndrew CarothersIsabel HansonPeter TeagueJill LovellAlan F WrightSamuel G JacobsonArtur V CideciyanNeena HaiderVal C SheffieldEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- American Journal of Human Genetics, Vol.67(5), pp.1348-1351
- DOI
- 10.1016/S0002-9297(07)62966-8
- PMID
- 11007652
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 2000
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979979202771
Metrics
14 Record Views