CLEFT LIP PALATE IN THE CHILEAN POPULATION - ASSOCIATION WITH TRANSFORMING GROWTH FACTOR-ALPHA GENE RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS/

In recent studies we have demostrated that the model that better expla ins the genetic etiology of non syndromic cleft lip/palate (CL/P) in t he Chilean population is one that postulates the existence of a major dominant autosomic locus with low penetrance, without discarding the p ossible influence of polygenes. Similar conclusions have been communic ated by others authors in different populations. Thus, investigations have been initiated to seek possible associations between candidate ge nes and restriction length polymorphisms (RFLPs), specifically between Transforming Growth Factor Alpha (TGFA) gene RFLPs and CL/P, in cauca sian populations. Results thus far obtained have been inconclusive. Th erefore, the aim of this work was to study this association in the Chi lean population, that is ethnically different. The gene and phenotype frequences of the TGFA gene BamH1 polymorphism in CL/P probands (n = 2 1) and controls (n = 16) were determined. No significant differences w ere detected in the frequencies of the A1 and A2 alleles of the TGFA g ene between probands and controls. These results do not support an ass ociation between the cleft palate phenotype and TGFA RFLP.