• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of ajhgLink to Publisher's site
Am J Hum Genet. Jan 1991; 48(1): 22–25.
PMCID: PMC1682747

Allele frequency estimation from data on relatives.


Given genetic marker data on unrelated individuals, maximum-likelihood allele-frequency estimates and their standard errors are easily calculated from sample proportions. When marker phenotypes are observed on relatives, this method cannot be used without either discarding a subset of the data or incorrectly assuming that all individuals are unrelated. Here, I describe a method for allele frequency estimation for data on relatives that is based on standard methods of pedigree analysis. This method makes use of all available marker information while correctly taking into account the dependence between relatives. I illustrate use of the method with family data for a VNTR polymorphism near the apolipoprotein B locus.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (613K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Bird TD, Boehnke M, Anderson J, Lampe TH, Schellenberg G, Larson EB. The frequency of C4B variants of complement in familial and sporadic Alzheimer disease. Alzheimer Dis Assoc Disord. 1987;1(4):251–255. [PubMed]
  • Boerwinkle E, Xiong WJ, Fourest E, Chan L. Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region. Proc Natl Acad Sci U S A. 1989 Jan;86(1):212–216. [PMC free article] [PubMed]
  • Elston RC, Stewart J. A general model for the genetic analysis of pedigree data. Hum Hered. 1971;21(6):523–542. [PubMed]
  • Lange K, Boehnke M. Extensions to pedigree analysis. V. Optimal calculation of Mendelian likelihoods. Hum Hered. 1983;33(5):291–301. [PubMed]
  • Lange K, Weeks D, Boehnke M. Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988;5(6):471–472. [PubMed]
  • Ludwig EH, Friedl W, McCarthy BJ. High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet. 1989 Sep;45(3):458–464. [PMC free article] [PubMed]
  • Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. [PubMed]
  • Schellenberg GD, Deeb SS, Boehnke M, Bryant EM, Martin GM, Lampe TH, Bird TD. Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. J Neurogenet. 1987 Apr;4(2-3):97–108. [PubMed]
  • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed]

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


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • OMIM
    OMIM record citing PubMed
  • PubMed
    PubMed citations for these articles