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Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate

Published online by Cambridge University Press:  21 February 2012

Jane W. Kimani
Affiliation:
Department of Pediatrics, University of Iowa, United States of America (*currently at Department of Pathology and Lab Medicine, University of North Carolina, United States of America).
Koh-ichiro Yoshiura
Affiliation:
Department of Human Genetics, Nagasaki University Graduate School of Biomedical sciences, Nagasaki, Japan.
Min Shi
Affiliation:
Biostatistics Branch, National Institute of Environmental Health Sciences (NIEHS), United States of America.
Astanand Jugessur
Affiliation:
Craniofacial Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
Danilo Moretti-Ferreira
Affiliation:
Servico de Aconselhamento, Genetico da Universidade Estadual Paulista, Botucatu, Brazil.
Kaare Christensen
Affiliation:
Department of Epidemiology, Institute of Public Health, University of Southern Denmark, Denmark.
Jeffrey C. Murray
Affiliation:
Department of Pediatrics, University of Iowa, United States of America. jeff-murray@uiowa.edu
Corresponding
E-mail address:

Abstract

Phenotypically discordant monozygotic twins offer the possibility of gene discovery through delineation of molecular abnormalities in one member of the twin pair. One proposed mechanism of discordance is postzygotically occurring genomic alterations resulting from mitotic recombination and other somatic changes. Detection of altered genomic fragments can reveal candidate gene loci that can be verified through additional analyses. We investigated this hypothesis using array comparative genomic hybridization; the 50K and 250K Affymetrix GeneChip® SNP arrays and an Illumina custom array consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events and small aberrations beyond the detection level of our experimental approach cannot be ruled out. The stability of genomes we observed in our study samples also suggests that detection of discordant events in other monozygotic twin pairs would be remarkable and of potential disease significance.

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Articles
Copyright
Copyright © Cambridge University Press 2009

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