Journal article
Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
American journal of human genetics, Vol.45(3), pp.348-353
09/1989
PMCID: PMC1683414
PMID: 2570526
Abstract
Complex segregation analysis of pedigrees having nonsyndromic cleft lip with or without cleft palate (CL/P) (Chung et al. 1986; Marazita et al. 1986) has shown that a major-locus model best explains the observed recurrence of CL/P in Caucasian families. To identify this major gene, we compared the frequencies of 12 RFLPs at five loci-epidermal growth factor, transforming growth factor-alpha, epidermal growth factor receptor, glucocorticoid receptor, and estrogen receptor-in both a group of 80 subjects with nonsyndromic CL/P and 102 controls. These candidate genes were selected because studies in rodents had suggested their possible involvement in palatogenesis. A significant association was observed between two RFLPs at the transforming-growth-factor-alpha (TGFA) locus and the occurrence of clefting (P = .0047 and P = .0052). This suggests that either the TGFA gene itself or DNA sequences in an adjacent region contribute to the development of a portion of cases of CL/P in humans and provides an opportunity to begin to examine the molecular events underlying lip and palate formation.
Details
- Title: Subtitle
- Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
- Creators
- H H Ardinger - Department of Pediatrics, University of Iowa, Iowa City 52242K H Buetow - Department of Pediatrics, University of Iowa, Iowa City 52242G I Bell - Department of Pediatrics, University of Iowa, Iowa City 52242J Bardach - Department of Pediatrics, University of Iowa, Iowa City 52242D R VanDemark - Department of Pediatrics, University of Iowa, Iowa City 52242J C Murray - Department of Pediatrics, University of Iowa, Iowa City 52242
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.45(3), pp.348-353
- PMID
- 2570526
- PMCID
- PMC1683414
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 09/1989
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025426302771
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