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| Silveira,Zama Messala Luna da; Barbosa,Maria das Vitórias; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de. |
| 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the β+IVS-I-6 mutation, 15 (48.4%) the β0IVS-I-1 mutation, 2 (6.5%) the β+IVS-I-110 mutation and 1 (3.2%) the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemoglobinopathies; Beta-thalassemia; Mutations; PCR-RFLP; Brazilian population. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010 |
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| Cabral,Cynthia Hatsue Kitayama; Serafim,Édvis Santos Soares; Medeiros,Waleska Rayane Dantas Bezerra de; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de. |
| βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Haplotypes; Β-globin; Sickle-cell anemia; Brazilian population; S hemoglobin. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300009 |
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| Fernandes,Thales Allyrio Araújo de Medeiros; Meissner,Rosely de Vasconcellos; Bezerra,Laelson Freire; Azevedo,Paulo Roberto Medeiros de; Fernandes,José Veríssimo. |
| We analyzed cervical specimens of 202 women, aged 15 to 64 years, attended at Luis Antonio Hospital, Natal, Brazil, to determine the prevalence of HPV and identify the more frequent genotypes and risk factors for HPV infection in women attended at a cervical cancer screening service. Two specimens were collected from each patient: one for cytological examination and the other to detect HPV DNA by PCR, and typing by dot blot hybridization. A total of 54.5% of the sample had normal cytology and 45.5% had cytological alterations. HPV was detected in 24.5% of the cytologically normal women and in 59.8% of those with altered cytology. Both single and double HPV infection increased the likelihood of cytological alterations. Thirteen types of HPV were identified,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Human papillomavirus; Cervical cancer; Epidemiology; Prevalence; Risk factors. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822008000300031 |
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