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dc.creatorBlanco C,Rafael
dc.creatorSuazo S,José
dc.creatorSantos M,José Luis
dc.creatorCarreño Z,Hernán
dc.creatorParedes A,Mónica
dc.creatorJara S,Lilian
dc.creatorEltit G,Felipe
dc.date2003-07-01
dc.date.accessioned2019-11-14T12:59:12Z
dc.date.available2019-11-14T12:59:12Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000700008
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/119347
dc.descriptionBackground: 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)
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dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872003000700008
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.131 n.7 2003
dc.subjectChromosomes, human
dc.subjectChromosomes, human, pair 6
dc.subjectCleft palate
dc.subjectMicrosatellite repeats
dc.titleEvaluación 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


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