Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1979 Jan;31(1):62–69.

Sampling considerations in the gathering and analysis of pedigree data.

R C Elston, E Sobel
PMCID: PMC1685674  PMID: 373427

Abstract

A general expression for the likelihood of a set of phenotypic observations on a randomly sampled pedigree, suitable for a wide variety of genetic models, has been previously modified to allow for independent ascertainments via probands. In this paper, further allowance is made for the fact that a pedigree usually contains some individuals who, whatever their phentoype, could never be probands, and we derive the limiting form of the likelihood appropriate for single ascertainment. The case when the sampling frame is ill-defined is discussed, and suggestions made for how to proceed in such a case.

Full text

PDF
62

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Elandt-Johnson R. C. Segregation analysis for complex modes of inheritance. Am J Hum Genet. 1970 Mar;22(2):129–144. [PMC free article] [PubMed] [Google Scholar]
  2. Elston R. C. Ascertainment and age of onset in pedigree analysis. Hum Hered. 1973;23(2):105–112. doi: 10.1159/000152561. [DOI] [PubMed] [Google Scholar]
  3. Elston R. C., Namboodiri K. K., Glueck C. J., Fallat R., Tsang R., Leuba V. Study of the genetic transmission of hypercholesterolemia and hypertriglyceridemia in a 195 member kindred. Ann Hum Genet. 1975 Jul;39(1):67–87. doi: 10.1111/j.1469-1809.1975.tb00109.x. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. Elston R. C., Yelverton K. C. General models for segregation analysis. Am J Hum Genet. 1975 Jan;27(1):31–45. [PMC free article] [PubMed] [Google Scholar]
  6. Go R. C., Elston R. C., Kaplan E. B. Efficiency and robustness of pedigree segregation analysis. Am J Hum Genet. 1978 Jan;30(1):28–37. [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. MORTON N. E. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959 Mar;11(1):1–16. [PMC free article] [PubMed] [Google Scholar]
  9. Williams J. S., Stene J. Assumptions for different ascertainment models in human genetics. Biometrics. 1977 Sep;33(3):523–527. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES