Journal article
Use of isolated inbred human populations for identification of disease genes
Trends in Genetics, Vol.14(10), pp.391-396
1998
DOI: 10.1016/S0168-9525(98)01556-X
PMID: 9820027
Abstract
The genetic mapping of disease loci involves the use of patient phenotype and genotype data in the search for genetic markers that segregate, or are associated with, a trait or disorder. Genetically isolated populations offer many advantages for such studies. The high degree of inbreeding and/or founder effects in some small population isolates result in an increased incidence of recessive disorders. Monogenic disorders are less likely to show non-allelic heterogeneity in isolated populations than in more diverse populations. The use of isolated populations also reduces the complexity of polygenic disorders by reducing the number of loci probably involved in the disorder. Finally, a variety of strategies can be used with particular efficacy for the mapping of disease genes in isolated populations.
Details
- Title: Subtitle
- Use of isolated inbred human populations for identification of disease genes
- Creators
- Val C Sheffield - Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USAEdwin M Stone - Department of Ophthalmology, University of Iowa, Iowa City, IA 52242, USARivka Carmi - Genetics Institute, Soroka Medical Center, Ben Gurion University of Negev, Beer-Sheva, Israel
- Resource Type
- Journal article
- Publication Details
- Trends in Genetics, Vol.14(10), pp.391-396
- DOI
- 10.1016/S0168-9525(98)01556-X
- PMID
- 9820027
- NLM abbreviation
- Trends Genet
- ISSN
- 0168-9525
- Publisher
- Elsevier Ltd
- Language
- English
- Date published
- 1998
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980392402771
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