A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil.
The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the G20210A mutation at the 3' untranslated region (3'UTR) of the prothrombin gene may be considered to be genetic risk factors that contribute to the clinical heterogeneity in sickle cell disease. The current study investigated a group of sickle cell (SS) patients from Salvador-Bahia, Northeast Brazil in order to determine the prevalence of these polymorphisms, using the polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) techniques. Out of 69 SS patients diagnosed with the C677T MTHFR gene polymorphism, 13 (18.6%) were heterozygous and four (5.7%) homozygous. The G20210A mutation was not found in 50 SS patients investigated. These results became important once the C677T MTHFR gene polymorphism was found to be an independent risk factor for vascular disease, a common clinical event in sickle cell disease.
Laboratório de Patologia e Biologia Molecular, Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador-Bahia, Brasil.
Fábio David
FD
Couto
Wendell Vilas
WV
Boas
Isa
I
Lyra
Angela
A
Zanette
Marie France
MF
Dupuit
Mari Ney Tavares
MN
Almeida
Mitermayer Galvão
MG
Reis
Marilda Souza
MS
Gonçalves
D020413:3' Untranslated Regions / Q000235:genetics*; D000755:Anemia, Sickle Cell / Q000150:complications; D001938:Brazil; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D014652:Vascular Diseases / Q000209:etiology / Q000235:genetics*
D020413:3' Untranslated Regions; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)