Abstract
In linkage analysis and gene mapping in general, typing error and/or errors in specifying pedigree relationships between individuals typically lead to an upwards bias in recombination fraction estimates and to a loss of power for detecting linkage. The presence of nonpaternity is the most common source of error of misspecification of pedigree relationships between individuals that can have a negative impact on pedigree analysis. We have developed estimates of underlying nonpaternity probabilities based on observed Mendelian inconsistencies. The methods were applied to a sample of 1,607 children and their parents. Genetic marker data were investigated to test for exclusions due to nonpaternity. Among the 1,607 children, 11 or 0.68% exclusions were found. When a constant nonpaternity rate was assumed for each child, its maximum likelihood estimate turned out to be 0.78% with asymptotic 95% confidence limits of 0.41% and 1.35%. When varying nonpaternity rates were assumed, its mean was estimated as 0.83% with asymptotic 95% confidence limits of 0.32% and 1.33%.
Original language | English |
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Pages (from-to) | 337-343 |
Number of pages | 7 |
Journal | Human heredity |
Volume | 44 |
Issue number | 6 |
DOIs | |
State | Published - 1994 |
Keywords
- Exclusion probability
- Maximum likelihood
- Mendelian inconsistency
- Nonpaternity