The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island
The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island
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DOI：
10.1016/j.bcmd.2011.01.006
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发表时间：
2011-04-15
影响因子：
2.3
通讯作者：
Maggio, Aurelio
中科院分区：
文献类型：
--
作者：
Giambona, Antonino;Vinciguerra, Margherita;Maggio, Aurelio
这项研究的目的是更新西西里岛引起β-地中海贫血和异常血红蛋白的珠蛋白基因缺陷的发生率和分布。这些数据来自1990年在西西里岛进行的一项血红蛋白病控制计划期间，总共研究了8875个β-地中海贫血等位基因和1330条变异的血红蛋白染色体。54个β-珠蛋白基因缺陷被鉴定，涉及30个不同的β-地中海贫血突变和24个变异的血红蛋白。在30个β-地中海贫血中，有8个缺陷占检查等位基因的95.11%，而其他β-珠蛋白基因缺陷的频率较低(1%)。鉴定出一致数量的变异血红蛋白(24个)，其中以Hb S最具代表性(72.1%)。我们的数据强调了西西里地区β-珠蛋白基因缺陷的异质性。β-珠蛋白基因分析技术的巨大进步使99.93%的突变等位基因得以表征，并使我们地区所有病例的早期妊娠产前诊断计划成为可能，地中海贫血的管理也得到了极大的改善。考虑到该岛的历史，讨论了大范围突变的起源。(C)2011 Elsevier Inc.保留所有权利。
The aim of this study is to update the incidence and the distribution of the globin gene defects causing beta-thalassemia and abnormal hemoglobins in Sicily. The data derived from a total of 8875 beta-thalassemia alleles and 1330 variant hemoglobin chromosomes studied in Sicily from 1990 during a hemoglobinopathy control program. Fifty-four beta-globin gene defects were characterized, involving 30 different beta-thalassemia mutations and 24 variant hemoglobins. Eight of 30 beta-thalassemia defects accounted for 95.11% of examined alleles while other beta-globin gene defects were found at lower frequencies (< 1%). A consistent number (24) of variant hemoglobins were identified of whom Hb S was the most represented (72.1%). Our data underline the heterogeneity of the beta-globin gene defects in the Sicily. The enormous progress in the technique for beta-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management. The origin of the large spectrum of mutations is discussed taking in consideration the history of the island. (C) 2011 Elsevier Inc. All rights reserved.