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| Adorno,Elisângela Vitória; Zanette,Ângela; Lyra,Isa; Seixas,Magda Oliveira; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza. |
| Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb) thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); ΒS-globin gene haplotypes; Fetal hemoglobin. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 |
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| Barbosa,Cynara Gomes; Souza,Claudio Lima; Moura Neto,José Pereira de; Arruda,Maria da Glória Bomfim; Barreto,José Henrique; Reis,Mitermayer Galvão; Goncalves,Marilda Souza. |
| Methylenetetrahydrofolate reductase (MTHFR: EC 1.5.1.20) polymorphisms are associated to acute lymphoid leukemia in different populations. We used the polymerase chain reaction and the restriction fragment length polymorphism method (PCR-RFLP) to investigate MTHFR C677T and A1298C polymorphism frequencies in 67 patients with chronic myeloid leukemia (CML), 27 with acute myeloid leukemia FAB subtype M3 (AML-M3) and 100 apparently healthy controls. The MTHFR mutant allele frequencies were as follows: CML = 17.2% for C677T, 21.6% for A1298C; AML-M3 = 22.2% for C677T, 24.1% for A1298C; and controls = 20.5% for C677T, 21% for A1298C. Taken together, our results provide evidence that MTHFR polymorphisms have no influence on the development of CML or AML-M3. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: AML; CML; MTHFR polymorphisms. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100005 |
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| Gonzaga,Rosa Maria S.; Rodart,Itatiana F.; Reis,Mitermayer Galvão; Ramalho Neto,Cícero Eduardo; Silva,Denise Wanderlei. |
| We determined the frequency of hepatitis C virus (HCV) genotypes in anti-HCV seropositive patients in the state of Alagoas, Brazil, by means of nested-reverse transcription-polymerase chain reaction (RT-nested-PCR) followed by restriction fragment length polymorphism (RFLP) of amplified fragments of the 5´NCR. The nested-PCR with genotype-specific primers from the core region was carried out when detection was not possible by the first approach. Detectable HCV-RNA was present in 115 (74.7%) of 154 serum samples. Genotype 1 was the most frequent (77.4%), against 20.9% of genotype 3 and 0.8% of genotype 2. Subtype 1b was predominant (65.2%), followed by subtypes 1a (8.7%), and 3a (6.1%). Coinfection (1a/3a) was detected in 0.8% of the samples. Indeed, there... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hepatitis C virus; 5'NCR; Core region; RT-nested-PCR; Genotypes. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822008000400008 |
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