Title

Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits

Document Type

Article

Peer Reviewed

1

Publication Date

2-1-2005

NLM Title Abbreviation

Twin Res Hum Genet

Journal/Book/Conference Title

Twin research and human genetics

PubMed ID

15836809

DOI of Published Version

10.1375/1832427053435373

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.

Keywords

Cleft Lip/genetics, Cleft Palate/genetics, Humans, Models, Genetic, Twins, Monozygotic/genetics

Published Article/Book Citation

Twin research and human genetics, 8:1 (2005) pp.39-46. DOI:10.1375/1832427053435373.

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URL

https://ir.uiowa.edu/nursing_pubs/745