No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations

Diego F. Wyszynski, Nancy Maestri, Amy F. Lewanda, Iain McIntosh, Anne Smith, Constanza García-Delgado, Enrique Vinageras-Guarneros, Eric Wulfsberg, Terri H. Beaty

Research output: Contribution to journalArticle

Abstract

Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico with a nonsyndromic form of cleft lip with or without cleft palate were selected for a linkage analysis. A tetranucleotide repeat marker (D2S443) located on the same yeast artificial chromosome as the transforming growth factor alpha locus was tested for linkage to a putative susceptibility Mendelian locus under varying levels of pentrance. No evidence for linkage between D2S443 and a susceptibility locus for cleft lip with or without cleft palate was found. Insight is given to explain this outcome in spite of the statistically significant associations found by other investigators.

Original languageEnglish (US)
Pages (from-to)101-109
Number of pages9
JournalHuman Heredity
Volume47
Issue number2
DOIs
StatePublished - Jan 1997

Keywords

  • Birth defects
  • Linkage
  • Malformations
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Wyszynski, D. F., Maestri, N., Lewanda, A. F., McIntosh, I., Smith, A., García-Delgado, C., Vinageras-Guarneros, E., Wulfsberg, E., & Beaty, T. H. (1997). No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations. Human Heredity, 47(2), 101-109. https://doi.org/10.1159/000154397