Major gene analysis of quantitative variation in blood clotting factor X levels

Blood clotting factor ten (X) levels measured in 149 people in six pedigrees were found to fit a mixture of normal distributions. No environmental effect could be identified to account for the wide separation in the means of these distributions. Pedigree analysis reveals that the data are compatible with an autosomal, one locus, two allele genetic model affecting factor X activity. Goodness of fit tests suggest that the allele for low levels of factor X is dominant, though on the basis of likelihood tests, mean heterozygote levels are different from mean homozygote levels. A similar bimodal distribution for factor X levels observed previously in a separate sample of 207 young men, indicated that the proposed dominant allele has an estimated population gene frequency of .53. The earlier estimate is remarkably similar to that obtained with the currently ascertained pedigrees. The postulated major gene accounts for more than half of the variation in factor X levels.