The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

The effect of pedigree structure on detection of deletions and other null alleles.

På svenska

Author

Summary, in English

Deletions and other null alleles for genetic markers can be detected as a special case of non-Mendelian inheritance, ie when a parent and a child appear to be homozygous for different alleles. The probability to detect a deletion for a fixed overall number of investigated individuals was calculated for biallelic and multiallelic markers with varying allele frequencies. To determine the effect of increasing the number of parents and grandparents, the probability for this event was derived for a parent and one child, a trio, a trio with one grandparent and a trio with two grandparents. The results for biallelic markers show that for a fixed total number of individuals, a sample of trios with two grandparents is always more efficient than the other family types, despite a lower total number of founder chromosomes in the sample. For multiallelic markers the outcome varies. The effect of adding additional children to a nuclear family was also investigated. For nuclear families, the optimal number of children is two or three, depending on the allele frequencies. It is shown that adding children is more efficient than adding grandparents.European Journal of Human Genetics advance online publication, 16 April 2008; doi:10.1038/ejhg.2008.75.

Department/s

Publishing year

2008

Language

English

Pages

1225-1234

Publication/Series

European Journal of Human Genetics

Volume

16

Issue

10

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Keywords

  • deletion
  • null allele
  • pedigree
  • genetic marker

Status

Published

Research group

  • Evolutionary Genetics

ISBN/ISSN/Other

  • ISSN: 1476-5438