Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
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下一代测序改善了高患病人群中婚前成年人的地中海贫血携带者筛查：中国傣族
DOI：
10.1038/gim.2016.218
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发表时间：
2017-09-01
影响因子：
8.8
通讯作者：
Zhu, Baosheng
中科院分区：
文献类型：
--
作者：
He, Jing;Song, Wenhui;Zhu, Baosheng
目的：地中海贫血是我国西南地区最常见的单基因遗传病之一，在傣族人群中尤为常见。在这里，我们探讨了新一代测序（NGS）的筛查方法，专门为傣族人的可行性。采用传统的血液学方法（红细胞指数和血红蛋白电泳，然后DNA测序）和NGS方法进行双盲，平行的血红蛋白病筛查。结果：在951名受试者中，我们发现使用NGS筛查的地中海贫血携带率为49.5%（471/951），而使用传统方法发现的携带率为22.0%（209/951）。传统筛查方法漏诊α-地中海贫血携带者217例（74.8%），α-地中海贫血和β-地中海贫血混合携带者25例（30.5%）。傣族人群中α-地中海贫血和β-地中海贫血的携带者比例为8.6%（82/951）。结论：方法学比较表明NGS在敏感性和特异性方面均具有优越性，为地中海贫血筛查策略提供了一个全面的评估，并表明NGS是一种有竞争力的筛查方法，特别是在疾病高发人群中。
Purpose:Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people.Methods:Blood samples were obtained from Dai people for premarital screening. Double-blind, parallel hemoglobinopathy screening was conducted using both traditional hematological methods (red cell indexes and hemoglobin electrophoresis, then DNA sequencing) and an NGS approach.Results:Among 951 tested individuals, we found a thalassemia carrier rate of 49.5%(471/951) using the NGS screen, in contrast to 22.0%(209/951) found using traditional methods. Almost 74.8%(217/290) of α-thalassemia carriers and 30.5%(25/82) of composite α-and β-thalassemia carriers were missed by traditional screens. The proportion of such α-and β-thalassemia carriers among the Dai people is 8.6%(82/951). For β-thalassemia carriers, the high ratio (66/99) of CD26 mutations may suggest a correlation between CD26 and the environmental adaption of the Dai people.Conclusions:Methodological comparisons demonstrate the superiority of NGS for both sensitivity and specificity, provide a comprehensive assessment of thalassemia screening strategies, and indicate that NGS is a competitive screening method, especially among populations with a high prevalence of disease.