Abstract
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.
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Selected References
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- Elston R. C., Stewart J. A general model for the genetic analysis of pedigree data. Hum Hered. 1971;21(6):523–542. doi: 10.1159/000152448. [DOI] [PubMed] [Google Scholar]
- Elston R. C., Stewart J. The analysis of quantitative traits for simple genetic models from parental, F 1 and backcross data. Genetics. 1973 Apr;73(4):695–711. doi: 10.1093/genetics/73.4.695. [DOI] [PMC free article] [PubMed] [Google Scholar]
- GRAHAM J. B., BARROW E. M., HOUGIE C. Stuart clotting defect. II. Genetic aspects of a new hemorrhagic state. J Clin Invest. 1957 Mar;36(3):497–503. doi: 10.1172/JCI103447. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HOUGIE C., BARROW E. M., GRAHAM J. B. Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. J Clin Invest. 1957 Mar;36(3):485–496. doi: 10.1172/JCI103446. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jackson C. M. Characterization of two glycoprotein variants of bovine factor X and demonstration that the factor X zymogen contains two polypeptide chains. Biochemistry. 1972 Dec 19;11(26):4873–4882. doi: 10.1021/bi00776a001. [DOI] [PubMed] [Google Scholar]
- Lange K., Elston R. C. Extensions to pedigree analysis I. Likehood calculations for simple and complex pedigrees. Hum Hered. 1975;25(2):95–105. doi: 10.1159/000152714. [DOI] [PubMed] [Google Scholar]
- Lester R. H., Elston R. C., Graham J. B. Variations in levels of blood clotting factors IX and X in a population of normal men: possible genetic polymorphisms. Am J Hum Genet. 1972 Mar;24(2):168–180. [PMC free article] [PubMed] [Google Scholar]
- Maclean C. J., Morton N. E., Elston R. C., Yee S. Skewness in commingled distributions. Biometrics. 1976 Sep;32(3):695–699. [PubMed] [Google Scholar]
- Ratnoff O. D., Bennett B. The genetics of hereditary disorders of blood coagulation. Science. 1973 Mar 30;179(4080):1291–1298. doi: 10.1126/science.179.4080.1291. [DOI] [PubMed] [Google Scholar]
- Siervogel R. M., Lester R. H., Elston R. C., Graham J. B. The effect of some common environmental factors on the level of blood clotting factor X. Thromb Res. 1978 Jan;12(1):187–190. doi: 10.1016/0049-3848(78)90098-1. [DOI] [PubMed] [Google Scholar]