来自特立尼达的镰状细胞病患者的β-珠蛋白基因簇单倍型与α-地中海贫血

Beta-globin gene cluster haplotypes and alpha-thalassemia in sickle cell disease patients from Trinidad.

作者信息

Jones-Lecointe Altheia, Smith Erskine, Romana Marc, Gilbert Marie-Georges, Charles Waveney P, Saint-Martin Christian, Kéclard Lisiane

机构信息

Faculty of Medical Sciences, Unit of Pathology and Microbiology, St. Augustine, Trinidad, West Indies.

出版信息

Am J Hum Biol. 2008 May-Jun;20(3):342-4. doi: 10.1002/ajhb.20732.

DOI:10.1002/ajhb.20732

PMID:18257074

Abstract

In this study, we have determined the frequency of beta(S) haplotypes in 163 sickle cell disease patients from Trinidad. The alpha(3.7) globin gene deletion status was also studied with an observed gene frequency of 0.17. Among the 283 beta(S) chromosomes analyzed, the Benin haplotype was the most prevalent (61.8%) followed by Bantu (17.3%), Senegal (8.5%), Cameroon (3.5%), and Arab-Indian (3.2%), while 5.7% of them were atypical. This beta(S) haplotypes distribution differed from those previously described in other Caribbean islands (Jamaica, Guadeloupe, and Cuba), in agreement with the known involvement of the major colonial powers (Spain, France, and Great Britain) in the slave trade in Trinidad and documented an Indian origin of the beta(S) gene.

摘要

在本研究中，我们测定了来自特立尼达的163例镰状细胞病患者中β(S)单倍型的频率。同时研究了α(3.7)珠蛋白基因缺失状态，观察到的基因频率为0.17。在分析的283条β(S)染色体中，贝宁单倍型最为常见(61.8%)，其次是班图单倍型(17.3%)、塞内加尔单倍型(8.5%)、喀麦隆单倍型(3.5%)和阿拉伯-印度单倍型(3.2%)，而其中5.7%为非典型单倍型。这种β(S)单倍型分布与先前在其他加勒比岛屿(牙买加、瓜德罗普岛和古巴)描述的不同，这与主要殖民大国(西班牙、法国和英国)参与特立尼达奴隶贸易的情况相符，并证明了β(S)基因的印度起源。