Distribution of lod scores under uncertain mode of inheritance

C. J. MacLean, D. T. Bishop, S. L. Sherman, S. R. Diehl

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29 Scopus citations

Abstract

We consider probability distributions of alternative lod statistics, differing in their treatment of segregation parameters when mode of inheritance is uncertain. A particular pedigree structure and a dominant genetic system displaying incomplete penetrance are analyzed. Lod scores calculated assuming an incorrect segregation model appear to conform quite well to the χ2 distribution in the absence of linkage. In the presence of linkage, some power is lost. However, if lod scores are calculated under several different segregation models and the best one is accepted, opportunity for chance occurrence of high lod scores is enhanced. The distribution is still χ2, but with extra degrees of freedom. These results hold over a wide range of sample sizes and segregation models, including small samples and low levels of penetrance.

Original languageEnglish (US)
Pages (from-to)354-361
Number of pages8
JournalAmerican Journal of Human Genetics
Volume52
Issue number2
StatePublished - 1993
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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