R. Blanco et al., EVIDENCE FOR A MAJOR GENE IN THE SUSCEPTI BILITY TO CLEFT LIP PALATE - SEGREGATION ANALYSIS IN THE CHILEAN POPULATION/, Revista Medica de Chile, 121(11), 1993, pp. 1258-1268
The most generally accepted model for cleft lip/palate not associated
to specific syndromes has been the one that postulates multifactorial
inheritance with a threshold. Recent studies using complex analytical
techniques have suggested the existence of a major gene with decreased
penetrance in its etiology. Some authors have postulated that only a
fraction of all cases of non-syndronmic CL (P) would be explained by a
single major gene. Other cases may be due to different genes, to envi
ronmental agents or to the interaction between them. The present study
tests the monogenic inheritance model for CL (P) using segregation an
alysis in a sample of 211 extended pedigrees collected through CL (P)
affected probands. The hypotheses of an autoscmic recessive gene was a
nalized in 151 sibships (size 2 or more) using ''Apert's'' method, ''m
aximum likelihood method'', ''singles method'' and ''sib's, method'' (
single incomplete ascertainment). Results obtained do not support the
hypotheses of autosomal recessive inheritance. Instead, the hypothesis
of an autosomal dominant mode of inheritance with low penetrance is n
ot rejected when analyzing the proportion of normal and affected proge
ny in certain types of matings in a subsample of 30 extended pedigrees
with two or more affected individuals.