ASSOCIATION OF GENETIC-VARIATION OF THE TRANSFORMING GROWTH FACTOR-ALPHA GENE WITH CLEFT-LIP AND PALATE

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  • 1 September 1989
    • journal article
    • research article
    • Vol. 45  (3) , 348-353
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.sbd.epidermol growth factor, transforming growth factor.sbd..alpha., epidermal growth factor receptor, glucocorticoid receptor, and estrogen receptor-in both a group of 80 subjects with non-syndromic 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 provdes an opportunity to begin to examine the molecular events underlying lip and palate formation.