Determination of β(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

β(S) 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-s...

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Detalles Bibliográficos
Autores principales: Cabral, Cynthia Hatsue Kitayama, Serafim, Édvis Santos Soares, de Medeiros, Waleska Rayane Dantas Bezerra, de Medeiros Fernandes, Thales Allyrio Araújo, Kimura, Elza Miyuki, Costa, Fernando Ferreira, de Fátima Sonati, Maria, Rebecchi, Ivanise Marina Moretti, de Medeiros, Tereza Maria Dantas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2011
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168181/
https://www.ncbi.nlm.nih.gov/pubmed/21931513
http://dx.doi.org/10.1590/S1415-47572011005000027
Descripción
Sumario:β(S) 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.

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