Estimating parental relationship in linkage analysis of recessive traits

Journal Article · Fri May 17 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G· OSTI ID:539192

Merette, C ^[1]; Ott, J ^[2]

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1. Universite Laval Robert-Giffard, Beauport, Quebec (Canada)
2. Columbia Univ., New York, NY (United States)

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.

• OSTI ID: 539192
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 2; Other Information: PBD: 17 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

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