Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2007 Oct 4:8:67.
doi: 10.1186/1471-2156-8-67.

Extended homozygosity is not usually due to cytogenetic abnormality

David Curtis  1
Affiliations

Extended homozygosity is not usually due to cytogenetic abnormality

David Curtis. BMC Genet. .

Abstract

Background: Previous studies have reported frequent stretches of homozygosity in human subjects but have failed to clarify whether these are due to cytogenetic abnormalities or to autozygosity.

Methods: Trios which had been typed for closely spaced SNPs spanning the genome were studied. Stretches of extended homozygosity were identified in the child members, as were occasions on which the child had been genotyped as not inheriting one parental allele. The number of times such transmission errors occurred within regions of extended homozygosity was compared with the chance expectation.

Results: Transmission errors occurred more rarely in regions of extended homozygosity than would be expected by chance.

Discussion: Regions of extended homozygosity are not generally due to cytogenetic abnormalities such as uniparental isodisomy. They reflect the Mendelian inheritance of haplotypes from a common ancestor. This may have implications for mapping disease genes.

PubMed Disclaimer

References

    1. Gibson J, Morton NE, Collins A. Extended tracts of homozygosity in outbred human populations. Hum Mol Genet. 2006;15:789–795. doi: 10.1093/hmg/ddi493. - DOI - PubMed
    1. Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007;16:1–14. doi: 10.1093/hmg/ddl436. - DOI - PubMed
    1. Broman KW, Weber JL. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet. 1999;65:1493–1500. doi: 10.1086/302661. - DOI - PMC - PubMed
    1. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990;6:575–577. doi: 10.1016/0888-7543(90)90491-C. - DOI - PubMed
    1. Affymetrix 500K marker set. 2007. http://www.affymetrix.com/support/technical/sample_data/500k_data.affx

Publication types

Substances

LinkOut - more resources