Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. We carried out...

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Bibliographic Details
Published in:American journal of human genetics 1993-10, Vol.53 (4), p.836-843
Main Authors: Shiang, R, Lidral, A C, Ardinger, H H, Buetow, K H, Romitti, P A, Munger, R G, Murray, J C
Format: Article
Language:English
Subjects:
Adolescent
Adult
Base Sequence
BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
cDNA
Child
Child, Preschool
cleft lip/palate
Cleft Palate - genetics
CONGENITAL MALFORMATIONS
DIGESTIVE SYSTEM
DNA Primers
DNA SEQUENCING
FACE
Female
GENE MUTATIONS
genes
GROWTH FACTORS
HEAD
Humans
Infant
Male
MALFORMATIONS
man
MITOGENS
Molecular Sequence Data
morphogenesis
MUTATIONS
ORAL CAVITY
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
polymorphism
Polymorphism, Restriction Fragment Length
PROTEINS
Retrospective Studies
Sequence Alignment
SKELETON
SKULL
STRUCTURAL CHEMICAL ANALYSIS 550400 > Genetics
transforming growth factor alpha
Transforming Growth Factor alpha - genetics
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Summary:Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. We carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3' untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using chi 2 analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3' untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P.
ISSN:0002-9297
1537-6605