Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate

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 f...

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Bibliographic Details
Published in:American journal of human genetics 1989-09, Vol.45 (3), p.348-353
Main Authors: ARDINGER, H. H, BUETOW, K. H, BELL, G. I, BARDACH, J, VANDEMARK, D. R, MURRAY, J. C
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alleles
Biological and medical sciences
Child
Child, Preschool
Cleft Lip - genetics
cleft lip/palate
Cleft Palate - genetics
DNA Probes
Facial bones, jaws, teeth, parodontium: diseases, semeiology
genes
Genetic Markers
Genotype
Haplotypes
Humans
Infant
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Transforming Growth Factors - genetics
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Summary: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.
ISSN:0002-9297
1537-6605