Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China
Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China
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中国南方榆林地区α-和β-地中海贫血的分子特征
DOI：
10.1016/j.gene.2018.02.058
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发表时间：
2018-05-20
期刊：
影响因子：
3.5
通讯作者：
Qiu, Xiaoxia
中科院分区：
文献类型：
--
作者：
He, Sheng;Li, Jihui;Qiu, Xiaoxia
地中海贫血是最常见的遗传性血液病之一。流行病学资料的流行和分布的突变是重要的地中海贫血控制计划的规划。为了解玉林地区地中海贫血的患病率和突变谱，我们对玉林地区130,318例地中海贫血患者进行了血液学和遗传学分析。共有24，886例（19.10%）受试者被诊断为地中海贫血，其中16，308例（12.51%）受试者仅患有α地中海贫血，6658例（5.11%）受试者仅患有β地中海贫血，1920例（1.47%）受试者同时患有α地中海贫血和β地中海贫血。在α-地中海贫血受试者中鉴定出10种α-地中海贫血突变，常见的α-地中海贫血突变为-（SEA）突变（51.91%）、-α（3.7）突变（19.90%）、α（cs）α突变（10.58%）、-α 4.2突变（8.13%）、α（ws）α突变（7.67%）。在β-地中海贫血受试者中鉴定了13种β-地中海贫血突变和31种基因型。七种常见的突变[CD 41 -42（-CTIT）]（43.31%），CD17（A > T）（34.58%），CD26（G > A）（6.86%），CD71-72（+A）（4.25%）、-28（A > G）（3.90%）、IVS-II-654（C > T）（3.53%）和IVS-I-1（G > T）（2.22%）]占β地中海贫血缺陷的98.65%。此外，在该区域首次发现了6例α-三倍体和3例α-突变（2.4）。结果表明，榆林地区人群中地中海贫血具有很大的异质性和广泛的遗传谱。研究结果将为该地区地中海贫血的防治提供参考。
Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the prevalence and distribution of mutations is important for planning a thalassemia control program. To reveal the prevalence of thalassemia and mutation spectrum in the Yulin region of southern China, we screened 130,318 individuals from Yulin region by hematological and genetic analysis. Totally, 24,886 (19.10%) subjects were diagnosed with thalassemia, including 16,308 (12.51%) subjects with alpha-thalassemia alone, 6658 (5.11%) subjects with beta-thalassemia alone and 1920 (1.47%) subjects with both alpha- and beta-thalassemia. Ten alpha-thalassemia mutations were identified in the alpha-thalassemia subjects, with the common alpha-thalassemia mutations being-(SEA) mutation (51.91%), -alpha(3.7) (19.90%), alpha(cs)alpha (10.58%), -alpha 4.2 (8.13%), alpha(ws)alpha (7.67%). Thirteen beta-thalassemia mutations and 31 genotypes were characterized in the beta-thalassemia subjects. The seven common mutations [CD41-42 (-CTIT) (43.31%), CD17 (A > T) (34.58%), CD26 (G > A) (6.86%), CD71-72 (+A) (4.25%), -28 (A > G) (3.90%), IVS-II-654 (C > T) (3.53%) and IVS-I-1 (G > T) (2.22%)] accounted for 98.65% of all beta-thalassemia defects. Furthermore, 6 cases of alpha-triplication and 3 cases of mutation-alpha(2.4) were first identified in this region. Our data illustrated that there was great heterogeneity and extensive spectrum of thalassemias in the Yulin populations. The findings will contribute an available reference for prevention of thalassemia in this region.