Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
25578400
TITLE
Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.
ABSTRACT
NlmCategory: UNASSIGNED
Monozygotic (MZ) twins form an important system for the study of biological plasticity in humans. While MZ twins are generally considered to be genetically identical, a number of studies have emerged that have demonstrated copy-number differences within a twin pair, particularly in those discordant for disease. The rate of autosomal copy-number variation (CNV) discordance within MZ twin pairs was investigated using a population sample of 376 twin pairs genotyped on Illumina Human610-Quad arrays. After CNV calling using both QuantiSNP and PennCNV followed by manual annotation, only a single CNV difference was observed within the MZ twin pairs, being a 130 KB duplication of chromosome 5. Five other potential discordant CNV were called by the software, but excluded based on manual annotation of the regions. It is concluded that large CNV discordance is rare within MZ twin pairs, indicating that any CNV difference found within phenotypically discordant MZ twin pairs has a high probability of containing the causal gene(s) involved.
DATE PUBLISHED
2015 Jan 12
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2015/01/13 06:00
pubmed 2015/01/13 06:00
medline 2015/01/13 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
McRae AF McRae Allan F AF Queensland Brain Institute,The University of Queensland,Brisbane,Queensland,Australia.
Visscher PM Visscher Peter M PM Queensland Brain Institute,The University of Queensland,Brisbane,Queensland,Australia.
Montgomery GW Montgomery Grant W GW QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2015
MONTH: Jan
DAY: 12
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
JOURNAL ARTICLE
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
CNV
de novo
monozygotic twins
post-zygotic
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's