期刊论文详细信息
Brazilian Journal of Medical and Biological Research
Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
A.p.c. Brandalize2  E. Bandinelli2  J.b. Borba2  T.m. Félix1  I. Roisenberg2  L. Schüler-faccini2 
[1],Universidade Federal do Rio Grande do Sul Departamento de Genética
关键词: Homocysteine;    Cleft lip/palate;    Methylenetetrahydrofolate reductase;    Methionine synthase;    Methionine synthase reductase;   
DOI  :  10.1590/S0100-879X2006005000112
来源: SciELO
PDF
【 摘 要 】
Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.
【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License

【 预 览 】
附件列表
Files Size Format View
RO202005130077989ZK.pdf 441KB PDF download
  文献评价指标  
  下载次数:0次 浏览次数:0次