SciELO - Scientific Electronic Library Online

 
vol.34 issue3Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] alleleCharacterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Genetics and Molecular Biology

Print version ISSN 1415-4757

Abstract

CABRAL, Cynthia Hatsue Kitayama et al. Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil. Genet. Mol. Biol. [online]. 2011, vol.34, n.3, pp.421-424.  Epub July 22, 2011. ISSN 1415-4757.  https://doi.org/10.1590/S1415-47572011005000027.

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.

Keywords : haplotypes; β-globin; sickle-cell anemia; Brazilian population; S hemoglobin.

        · text in English     · English ( pdf )

 

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