PMID: 7834275Jan 1, 1994

Transforming growth factor alpha: a modifying locus for nonsyndromic cleft lip with or without cleft palate?

European Journal of Human Genetics : EJHG
L Leigh FieldM L Marazita

Abstract

Most (but not all) studies have found weak but significant association between restriction fragment length polymorphisms at the transforming growth factor alpha (TGFA) locus on chromosome 2p13 and nonsyndromic cleft lip with or without cleft palate (CL +/- P). However, all attempts to demonstrate genetic linkage between TGFA and CL +/- P in families have produced consistently negative lod scores which provide evidence against linkage. We typed a 3-allele single-strand conformation polymorphism at TGFA in 14 extended families with multiple CL +/- P members from West Bengal, India. No significant TGFA differences were observed between the entire sample of 34 affected people and a sample of 38 unaffected people unrelated to each other (p = 0.39). However, affected individuals with CL only showed significant differences from unaffected individuals (p = 0.008). More interestingly, the CL only and CL+P groups of individuals differed strongly from each other in their TGFA frequencies (p = 0.0002). Using an autosomal dominant model with reduced penetrance for the inheritance of a major CL +/- P locus (suggested by our prior segregation analyses), a non-significant maximum lod score of 0.13 at a recombination frequency of 20% was obtain...Continue Reading

Citations

Jun 30, 2004·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Maria Rita Passos-BuenoBelmino Araújo
Jan 1, 1997·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·A C LidralW Magee
Feb 22, 2000·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·T C HartJ T Wright
Sep 21, 2004·American Journal of Medical Genetics. Part a·L Leigh FieldM L Marazita
Feb 12, 2000·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·F CarinciM Tognon
Feb 24, 2006·American Journal of Epidemiology·Alexandre Rezende Vieira
Dec 22, 2004·Critical Reviews in Toxicology·Audrey M Cummings, Robert J Kavlock
Aug 20, 2004·The New England Journal of Medicine·Theresa M ZuccheroJ C Murray
Mar 7, 2002·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·M L MarazitaYou-E Liu
Mar 7, 2003·The Journal of Craniofacial Surgery·F CarinciM Tognon
Nov 13, 2007·The Journal of Craniofacial Surgery·Rosario RulloF Carinci
May 29, 2002·Clinical Genetics·J C Murray

Related Concepts

Alleles
Genome Mapping
Cleft Lip
Cleft Palate, Isolated
DNA, Double-Stranded
Genetic Linkage Analysis
Nested Polymerase Chain Reaction
Transforming Growth Factor alpha
Single-Stranded Conformational Polymorphism

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.