title: [Evidence of a major gene in cleft lip/palate susceptibility by means of segregational analysis in the Chilean population].
abstract: 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-syndromic CL (P) would be explained by a single major gene. Other cases may be due to different genes, to environmental agents or to the interaction between them. The present study tests the monogenic inheritance model for CL (P) using segregation analysis in a sample of 211 extended pedigrees collected through CL (P) affected probands. The hypotheses of an autosomic recessive gene was analyzed in 151 sibships (size 2 or more) using "Apert's" method, "maximum 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 not rejected when analyzing the proportion of normal and affected progeny in certain types of matings in a subsample of 30 extended pedigrees with two or more affected individuals.
authors.affiliation: Departamento Biología Celular y Genética, Universidad de Chile, Santiago de Chile.
authors.forename: R
authors.initials: R
authors.lastname: Blanco
authors.forename: H
authors.initials: H
authors.lastname: Palomino
authors.forename: M X
authors.initials: MX
authors.lastname: Rameau
authors.forename: V
authors.initials: V
authors.lastname: Iñiguez
authors.forename: A
authors.initials: A
authors.lastname: Ruiz
authors.forename: L
authors.initials: L
authors.lastname: Jara
mesh_terms: D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male
vernacular_title: Evidencia de un gen mayor en la susceptibilidad a la fisura labiopalatina mediante analisis segregacional en la población Chilena.