Journal article
Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits
Twin research and human genetics : the official journal of the International Society for Twin Studies, Vol.8(1), p.39
0
02/2005
DOI: 10.1375/1832427053435373
PMID: 15836809
Abstract
Monozygotic (MZ) twins may be discordant for complex traits due to differential environmental exposure in utero, epigenetic variability in imprinting, X chromosome inactivation, or stochastic effects. Occasionally MZ twins may be discordant for chromosomal and single gene disorders due to somatic mosaicism. For complex traits, which are due to the interactive effects of multiple genes and environmental factors, the affected twin of a discordant MZ pair offers the possibility for identifying somatic mutations in candidate genes. DNA sequencing of candidate genes in discordant MZ twins can identify those rare etiologic mutational events responsible for the different phenotypes since the confounding effects of common single nucleotide polymorphisms are eliminated, as DNA sequences should be identical in MZ pairs. In this report we describe the extensive DNA sequencing of 18 candidate genes in a sample of MZ and dizygotic (DZ) twins with nonsyndromic cleft lip with or without cleft palate. We were unable to identify any somatic differences in approximately 34 Kb of DNA sequenced in 13 MZ pairs, for a total of approximately 900 Kb of sequence comparisons, supporting the hypothesis that nonetiologic posttwinning mutations are rare. While no etiologic variants were identified in this study, sequence comparisons of discordant MZ twins can serve as a tool for identifying etiologic mutations in clefting and other complex traits.
Details
- Title: Subtitle
- Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits
- Creators
- Maria Adela Mansilla - University of Iowa, Iowa Institute of Human GeneticsJane KimaniLaura E MitchellKaare Christensen - University of Southern DenmarkDorret I BoomsmaSandy Daack-Hirsch - University of Iowa, NursingBuena NepomucenaDiego F WyszynskiTemis M FelixNicholas G MartinJeffrey C Murray - University of Iowa, Dental Research
- Resource Type
- Journal article
- Publication Details
- Twin research and human genetics : the official journal of the International Society for Twin Studies, Vol.8(1), p.39
- Event
- 0
- DOI
- 10.1375/1832427053435373
- PMID
- 15836809
- NLM abbreviation
- Twin Res Hum Genet
- ISSN
- 1832-4274
- eISSN
- 1839-2628
- Publisher
- England
- Grant note
- ES10876 / NIEHS NIH HHS DE08559 / NIDCR NIH HHS DE15197 / NIDCR NIH HHS DE10293 / NIDCR NIH HHS
- Language
- English
- Date published
- 02/2005
- Academic Unit
- Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive)
- Record Identifier
- 9983557576902771
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