| dc.creator | Blanco C,Rafael | |
| dc.creator | Suazo S,José | |
| dc.creator | Santos M,José Luis | |
| dc.creator | Carreño Z,Hernán | |
| dc.creator | Paredes A,Mónica | |
| dc.creator | Jara S,Lilian | |
| dc.creator | Eltit G,Felipe | |
| dc.date | 2003-07-01 | |
| dc.date.accessioned | 2017-03-07T15:20:28Z | |
| dc.date.available | 2017-03-07T15:20:28Z | |
| dc.identifier | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000700008 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/383031 | |
| dc.description | 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) | |
| dc.format | text/html | |
| dc.language | es | |
| dc.publisher | Sociedad Médica de Santiago | |
| dc.source | Revista médica de Chile v.131 n.7 2003 | |
| dc.subject | Chromosomes, human | |
| dc.subject | Chromosomes, human, pair 6 | |
| dc.subject | Cleft palate | |
| dc.subject | Microsatellite repeats | |
| dc.title | 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 | |
| dc.type | Artículos de revistas | |
