[Genetic variation of MSX1 has a sexual dimorphism in non syndromic cleft palate in the Chilean population].

Abstract:

BACKGROUND:Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. AIM:To study the linkage between non syndromic cleft palate and variations of MSX1 gene. PATIENTS AND METHODS:Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. RESULTS:A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. CONCLUSIONS:These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.

journal_name

Rev Med Chil

journal_title

Revista medica de Chile

authors

Blanco R,Jara L,Villaseca C,Palomino H,Carreño H

subject

Has Abstract

pub_date

1998-07-01 00:00:00

pages

781-7

issue

7

eissn

0034-9887

issn

0717-6163

journal_volume

126

pub_type

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