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Title: Estimating parental relationship in linkage analysis of recessive traits

Abstract

In linkage analysis of recessive traits, parental relationship is important. For the case that it is unknown, the question is investigated as to whether estimating parental relationship and using the estimated relationship in linkage analysis is beneficial. Results show that estimating parental relationship can reliably be carried out on the basis of 50-100 genetic marker loci (analysis based on theory by Thompson). Misspecification of parental relationship leads to a loss of linkage informativeness, but not to false-positive evidence for linkage. An asymptotic bias in the recombination fraction estimate occurs when parents are unrelated and falsely taken to be related, but no such bias is seen when related parents are taken to be unrelated. Results from this investigation suggest that an estimated parental relationship may be used in linkage analysis as if it were the correct relationship, when evidence for the estimated relationship is supported by a likelihood ratio of at least 10:1 against the parents being unrelated. 9 refs., 2 figs., 5 tabs.

Authors:
 [1];  [2]
  1. Universite Laval Robert-Giffard, Beauport, Quebec (Canada)
  2. Columbia Univ., New York, NY (United States)
Publication Date:
OSTI Identifier:
539192
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 63; Journal Issue: 2; Other Information: PBD: 17 May 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; 99 MATHEMATICS, COMPUTERS, INFORMATION SCIENCE, MANAGEMENT, LAW, MISCELLANEOUS; STATISTICAL MODELS; SPECIFICITY; ACCURACY; GENETIC MAPPING; MONTE CARLO METHOD; COMPUTERIZED SIMULATION; S CODES; GENES; RECESSIVE MUTATIONS; GENE RECOMBINATION; PATIENTS; HEREDITARY DISEASES; GENETICS; HUMAN CHROMOSOMES; BIOLOGICAL MARKERS

Citation Formats

Merette, C, and Ott, J. Estimating parental relationship in linkage analysis of recessive traits. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G.
Merette, C, & Ott, J. Estimating parental relationship in linkage analysis of recessive traits. United States. https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G
Merette, C, and Ott, J. 1996. "Estimating parental relationship in linkage analysis of recessive traits". United States. https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G.
@article{osti_539192,
title = {Estimating parental relationship in linkage analysis of recessive traits},
author = {Merette, C and Ott, J},
abstractNote = {In linkage analysis of recessive traits, parental relationship is important. For the case that it is unknown, the question is investigated as to whether estimating parental relationship and using the estimated relationship in linkage analysis is beneficial. Results show that estimating parental relationship can reliably be carried out on the basis of 50-100 genetic marker loci (analysis based on theory by Thompson). Misspecification of parental relationship leads to a loss of linkage informativeness, but not to false-positive evidence for linkage. An asymptotic bias in the recombination fraction estimate occurs when parents are unrelated and falsely taken to be related, but no such bias is seen when related parents are taken to be unrelated. Results from this investigation suggest that an estimated parental relationship may be used in linkage analysis as if it were the correct relationship, when evidence for the estimated relationship is supported by a likelihood ratio of at least 10:1 against the parents being unrelated. 9 refs., 2 figs., 5 tabs.},
doi = {10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G},
url = {https://www.osti.gov/biblio/539192}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 63,
place = {United States},
year = {Fri May 17 00:00:00 EDT 1996},
month = {Fri May 17 00:00:00 EDT 1996}
}