[Association between cleft lip/palate phenotype and non syndrome microsatellite markers located in 6p, 17q and 19q].
BACKGROUND
In the search of the major genes responsible for the genetic etiology of Nonsyndromic Cleft Lip and Palate (NSCLP), an association study between this malformation and four molecular markers, F13A1 and EDN1 (6p), D17S579 (17q) and BCL3 (19q), was done.


OBJECTIVE
To determine, in a Chilean population, the presence of NSCLP susceptibility regions, as proposed for Caucasian populations in the 6p, 17q and 19q chromosomal regions.


METHODS
A sample of unrelated NSCLP patients, that belonged to Simplex (Sx) and Multiplex (Mx) families, was analyzed. Blood donors were used as a control group (Co). The DNA of the four markers was amplified by means of PCR, their products analyzed by PAGE denaturants and visualized by silver staining. Statistical analysis was performed using chi 2 log ratio.


RESULTS
Allele frequency distribution of D17S579 was significantly different in all patients with NSCLP and their subgroups, when compared to control subjects. Significant differences in EDN1 frequency were observed between the total groups of NSCLP patients and those pertaining to the Mx subgroup, when compared to controls. Differences in F13A1 distribution were only observed between NSCLP-Mx patients and controls. There was a slight difference in BCL3 distribution, between the total sample of NSCLP patients and controls.


CONCLUSIONS
Our results support the hypothesis of the existence of cleft susceptibility regions in 6p and 17q. The small significance of BCL3, suggests that ethnicity can influence the interactions between involved genes.
Carreño
Hernán
H
Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile.
Suazo
José
J
Paredes
Mónica
M
Solá
José
J
Valenzuela
Jimena
J
Blanco
Rafael
R
D000483:Alleles; D016022:Case-Control Studies; D002877:Chromosomes, Human / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D002888:Chromosomes, Human, Pair 19; D002896:Chromosomes, Human, Pair 6; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction; D044465:White People
D005819:Genetic Markers