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MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population
Brazilian Journal of Medical and Biological Research; Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Felix, T.M..
  • Souza, L.T.; Hospital de Clinicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratorio de Medicina Genomica. Porto Alegre. BR
  • Kowalski, T.W.; Hospital de Clinicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratorio de Medicina Genomica. Porto Alegre. BR
  • Collares, M.V.M.; Hospital de Clinicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratorio de Medicina Genomica. Porto Alegre. BR
  • Felix, T.M.; Hospital de Clinicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratorio de Medicina Genomica. Porto Alegre. BR
Braz. j. med. biol. res ; 46(7): 555-558, ago. 2013. tab
Article in English | LILACS | ID: lil-682403
ABSTRACT
Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.
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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Cleft Lip / Cleft Palate / MSX1 Transcription Factor Type of study: Etiology study / Prognostic study / Risk factors Limits: Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Braz. j. med. biol. res Journal subject: Biology / Medicine Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Hospital de Clinicas de Porto Alegre/BR

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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Cleft Lip / Cleft Palate / MSX1 Transcription Factor Type of study: Etiology study / Prognostic study / Risk factors Limits: Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Braz. j. med. biol. res Journal subject: Biology / Medicine Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Hospital de Clinicas de Porto Alegre/BR