Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

Joanna S. Zeiger, Jacqueline B. Hetmanski, Terry H. Beaty, Craig A. VanderKolk, Diego F. Wyszynski, Joan E. Bailey-Wilson, Rosa Ortiz de Luna, Claudia Perandones, Marie M. Tolarova, Terezie Mosby, Ricardo Bennun, Mabel Segovia, Pavel Calda, Elizabeth W. Pugh, Kim Doheny, Iain McIntosh

Research output: Contribution to journalArticlepeer-review

Abstract

Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus an additional 16 families using 31 markers on chromosome 2. This analysis showed intriguing evidence of linkage to 2q (Zlr = 2.26, empirical P-value = 0.028 in a chromosome-wide analysis). Transmission disequilibrium tests also revealed evidence of linkage and disequilibrium for two markers in this region (D2S168 and D2S1400 with P-values = 0.022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted.

Original languageEnglish (US)
Pages (from-to)835-839
Number of pages5
JournalEuropean Journal of Human Genetics
Volume11
Issue number11
DOIs
StatePublished - Nov 2003

Keywords

  • Chromosome 2
  • Cleft lip and palate
  • Linkage analysis
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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