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

Johansson, Anna LU and Säll, Torbjörn LU (2008) In European Journal of Human Genetics 16(10). p.1225-1234
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
deletion, null allele, pedigree, genetic marker
in
European Journal of Human Genetics
volume
16
issue
10
pages
1225 - 1234
publisher
Nature Publishing Group
external identifiers
  • wos:000259502200013
  • scopus:53249093786
ISSN
1476-5438
DOI
10.1038/ejhg.2008.75
language
English
LU publication?
yes
id
c4c9c998-ff92-48a6-9d64-79db3856e5f4 (old id 1147347)
date added to LUP
2009-03-06 12:41:23
date last changed
2017-01-01 04:26:33
@article{c4c9c998-ff92-48a6-9d64-79db3856e5f4,
  abstract     = {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.},
  author       = {Johansson, Anna and Säll, Torbjörn},
  issn         = {1476-5438},
  keyword      = {deletion,null allele,pedigree,genetic marker},
  language     = {eng},
  number       = {10},
  pages        = {1225--1234},
  publisher    = {Nature Publishing Group},
  series       = {European Journal of Human Genetics},
  title        = {The effect of pedigree structure on detection of deletions and other null alleles.},
  url          = {http://dx.doi.org/10.1038/ejhg.2008.75},
  volume       = {16},
  year         = {2008},
}