Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

Genetics and Molecular Biology

Cynthia Hatsue Kitayama Cabral²  Édvis Santos Soares Serafim¹  Waleska Rayane Dantas Bezerra De Medeiros²  Thales Allyrio Araújo De Medeiros Fernandes¹  Elza Miyuki Kimura¹  Fernando Ferreira Costa¹  Maria De Fátima Sonati¹  Ivanise Marina Moretti Rebecchi²  Tereza Maria Dantas De Medeiros² 

[1] ,Universidade Federal do Rio Grande do Norte Departamento de Análises Clínicas e Toxicológicas Natal RN ,Brazil

关键词: haplotypes;    β-globin;    sickle-cell anemia;    Brazilian population;    S hemoglobin;   

DOI  :  10.1590/S1415-47572011005000027

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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