Evaluación de la asociación entre marcadores de microsatélite en 6p22-25 y fisura labiopalatina no sindrómica utilizando el diseño de tríos caso-progenitores en la población chilena

Rafael Blanco C, José Suazo S, José Luis Santos M, Hernán Carreño Z, Monica Paredes Anaya, Lilian Jara S, Felipe Eltit G

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

2 Citas (Scopus)

Resumen

Background: Genetic studies indicate that nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Reports from different authors have suggested several candidate genes mapping in different chromosome regions. Association studies have suggested that a clefting locus is located on chromosome 6p. On these grounds we have investigated the possible association between five microsatellite markers located on 6p22-25 and NSCLP. Aim: To test the hypothesis on the possible association of a clefting locus with microsatellite markers located in 6p22-25. Patients and Methods: The sample consisted of 54 unrelated case-parent trios that comprise 54 NSCLP probands and 108 parents. Five microsatellite markers spanning the region 6p22-25 were analyzed for each individual by means of polymerase chain reaction with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. Nonparametric ETDT and MCETDT programs, were used to analyze the genotype data. Results: The family based association study showed that for the genotype wise analysis, only D6S259 presented a significant p-value (0.03). Nevertheless no individual allele of this marker showed an evident preferential transmission from heterozygous parents to affected offspring. Conclusions: The results of the present study do not show a clear evidence that a candidate gene for NSCLP may be located within or near the analyzed chromosome region in our sample. Nevertheless, it must be emphasized that the genotype wise analysis shows a significant p-value for D6S259 marker.

Título traducido de la contribuciónEvidence for association between microsatellite markers located on 6p22-25 and nonsyndromic cleft lip palate using the case-parents trio design in the Chilean population
Idioma originalEspañol
Páginas (desde-hasta)765-772
Número de páginas8
PublicaciónRevista Medica de Chile
Volumen131
N.º7
EstadoPublicada - jul 2003
Publicado de forma externa

Palabras clave

  • Chromosomes, human
  • Chromosomes, human, pair 6
  • Cleft palate
  • Microsatellite repeats

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