Analysis of Genetic Linkage and Somatic Loss of Heterozygosity in Affected Pairs of First-Degree Relatives

Recently, data on loss of constitutional heterozygosity (LOH) have been used by several groups to increase the power to detect linkage in pedigrees with an inherited cancer predisposition. This approach assumes that the predisposition is due to the inheritance of the defective copy of a tumor suppre...

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Bibliographic Details
Published in:American journal of human genetics 1997-08, Vol.61 (2), p.418-422
Main Authors: Rohde, K., Teare, M.D., Koref, M. Santibáñez
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Breast Neoplasms - genetics
Classical genetics, quantitative genetics, hybrids
Family Health
Female
Fundamental and applied biological sciences. Psychology
Gene Deletion
Genes, BRCA1
Genetic Linkage
Genetic Predisposition to Disease
Genetics of eukaryotes. Biological and molecular evolution
Heterozygote
Humans
Male
Methods, theories and miscellaneous
Neoplasms - genetics
Pedigree
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Description
Summary:Recently, data on loss of constitutional heterozygosity (LOH) have been used by several groups to increase the power to detect linkage in pedigrees with an inherited cancer predisposition. This approach assumes that the predisposition is due to the inheritance of the defective copy of a tumor suppressor. In order to assess the gain of power expected from the inclusion of LOH data, we simulated segregation and somatic loss of alleles in pedigrees consisting of an affected pair of first-degree relatives. We explored the effects of pedigree structure, frequency of loss, penetrance, and recombination rate on the expected LOD score. The results indicate that, for establishment of genetic linkage, isolated parent-offspring pairs can be as informative as sib pairs and that they could represent an additional source of information in linkage studies.
ISSN:0002-9297
1537-6605
DOI:10.1086/514849