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 ^[1] ; José Suazo S ^[1] ; José Luis Santos M ^[2] ; Hernán Carreño Z ^[1] ; Mónica Paredes A ^[1] ; Lilian Jara S ^[1] ; Felipe Eltit G ^[1]
  1. [1] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
  2. [2] Instituto de Nutrición y Tecnología de Alimentos Departamento de Epidemiología
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 131, Nº. 7, 2003, págs. 765-772
• Idioma: español
• Títulos paralelos:
  • Evidence for association between microsatellite markers located on 6p22-25 and nonsyndromic cleft lip palate using the case-parents trio design in the Chilean population
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• 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 (Rev Méd Chile 2003; 131: 765-72)