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Counseling for dominant traits: a correction for the ascertainment bias due to referral for analysis
Author(s) -
Gladstien Keith,
Spence M. Anne
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01757.x
Subject(s) - pedigree chart , inheritance (genetic algorithm) , genetic counseling , genetics , transmission (telecommunications) , sampling bias , multifactorial inheritance , biology , retinitis pigmentosa , statistics , sample size determination , computer science , gene , genotype , mathematics , single nucleotide polymorphism , telecommunications
Genetic heterogeneity complicates genetic counseling because the correct mode of inheritance must be determined independently for each pedigree. When autosomal and X‐linked dominant inheritance mechanisms are known, as for example with retinitis pigmentosa, then only families where male‐to‐male transmission is observed may be readily counseled. The other pedigrees may be autosomal but lack male‐to‐male transmission due to chance segregation. Since only the pedigrees without male‐to‐male transmission are analyzed for their mode of inheritance, there is an ascertainment bias which must be corrected when evaluating the likelihood of the two inheritance patterns. A methood to correct for this bias using conditional likelihoods is given, along with examples to demonstrate its use.