巴西北里奥格兰德州镰状细胞贫血患者的β 单倍型测定。
Determination of β haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil.
机构信息
Departamento de Análises Clínicas e Toxicológicas, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
出版信息
Genet Mol Biol. 2011 Jul;34(3):421-4. doi: 10.1590/S1415-47572011005000027. Epub 2011 Jul 1.
Abstract
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.
摘要
β(S) 单倍型在来自巴西北里奥格兰德州的 47 名非相关镰状细胞贫血患者中进行了研究。分子分析采用 PCR/RFLP 方法，使用 XmnI、HindIII、HincII 和 HinfI 限制内切酶分析β 簇中的六个多态性位点。27 名患者（57.5%）被鉴定为基因型 CAR/CAR，9 名（19.1%）为 CAR/BEN，6 名（12.8%）为 CAR/CAM，1 名（2.1%）为 BEN/BEN，2 名（4.3%）为 CAR/Atp，1 名（2.1%）为 BEN/Atp，1 名（2.1%）为 Atp/Atp。与其他巴西州相比，喀麦隆单倍型的较高频率表明北里奥格兰德州存在非洲起源的特殊性。
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