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

Journal Article · Fri Oct 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5135757

Shiang, R ^[1]; Lidral, A C; Ardinger, H H; Murray, J C; Romitti, P A; Munger, R G; Buetow, K H

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1. Univ. of California, Irvine, CA (United States)

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. The authors 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[prime] 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 X[sup 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[prime] 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. 46 refs., 3 figs., 3 tabs.

• OSTI ID: 5135757
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CONGENITAL MALFORMATIONS
DIGESTIVE SYSTEM
DNA SEQUENCING
FACE
GENE MUTATIONS
GROWTH FACTORS
HEAD
MALFORMATIONS
MITOGENS
MUTATIONS
ORAL CAVITY
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
PROTEINS
SKELETON
SKULL
STRUCTURAL CHEMICAL ANALYSIS