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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/69093
Title: 
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence
Author(s): 
Institution: 
  • Universidade Estadual Paulista (UNESP)
  • Universidade de São Paulo (USP)
  • University of Pittsburgh
ISSN: 
  • 1415-4757
  • 1678-4685
Abstract: 
Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética.
Issue Date: 
20-Sep-2006
Citation: 
Genetics and Molecular Biology, v. 29, n. 3, p. 439-442, 2006.
Time Duration: 
439-442
Keywords: 
  • Cleft lip
  • Cleft palate
  • Oral clefts
  • 5,10 methylenetetrahydrofolate reductase (FADH2)
  • DNA
  • transcription factor MSX1
  • transforming growth factor beta3
  • adult
  • allele
  • child
  • cleft lip
  • cleft palate
  • DNA determination
  • family assessment
  • female
  • gene frequency
  • gene linkage disequilibrium
  • gene mapping
  • genetic association
  • genetic polymorphism
  • genetic risk
  • genotype
  • heredity
  • human
  • major clinical study
  • male
  • pathophysiology
  • risk assessment
  • sex difference
Source: 
http://dx.doi.org/10.1590/S1415-47572006000300005
URI: 
Access Rights: 
Acesso aberto
Type: 
outro
Source:
http://repositorio.unesp.br/handle/11449/69093
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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