Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F
Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F
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DOI：
10.1111/ijlh.12401
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发表时间：
2015-12-01
影响因子：
3
通讯作者：
Li, D. -Z.
中科院分区：
文献类型：
--
作者：
Cai, W. -J.;Li, J.;Li, D. -Z.
简介：本研究的目的是确定中国人群中 HbF 水平升高的个体中 β-珠蛋白基因簇缺失的患病率。方法：选择 HbF 水平 >= 10% 的受试者进行进一步调查。 Gap-PCR 用于筛选三种常见的 β-珠蛋白基因簇缺失：中国人 ((A)gamma delta beta)(0)-地中海贫血、东南亚 (SEA) 缺失和 Hb Lepore。使用多重连接依赖性探针扩增 (MLPA) 来分析与三种常见缺失之一无关的 β-珠蛋白基因簇的剂量变化。结果：131 名个体的 Hb F 水平升高；131 名个体的 Hb F 水平升高。其中，51人（38.9%）被证明患有中国（(A)gamma delta beta)0-地中海贫血（n = 37）或SEA缺失（n = 14）。检测到一例 Hb Lepore-Boston-Washington 病例。 MLPA 仅在其余 80 名患者中的 3 例中检测到 2 处缺失。 Gap-PCR证实，其中一例包含1357 bp的β珠蛋白基因缺失（NG_000007.3：g.69997_71353del1357），以及由HBG2的外显子1和2（（G）γ珠蛋白基因）和HBG1的外显子3（（A）γ珠蛋白基因）组成的HBG2-HBG1融合基因（HBG2： c.315 + 573_HBG1: c.315 + 572del) 两例。结论：中国人((A)gamma delta beta)0-地中海贫血和SEA缺失是中国人最常见的β-珠蛋白基因簇大缺失。在β-地中海贫血发病率较高的中国，应将Gap-PCR检测这两个缺失用于地中海贫血筛查项目。
Introduction: The aim of this study was to determine the prevalence of beta-globin gene cluster deletions in individuals with increased Hb F levels in a Chinese population.Methods: Subjects with HbF levels >= 10% were selected for further investigation. Gap-PCR was used to screen for three common beta-globin gene cluster deletions: Chinese ((A)gamma delta beta)(0)-thalassemia, Southeast Asian (SEA) deletion and Hb Lepore. Multiplex ligation-dependent probe amplification (MLPA) was used to analyze dosage changes of the beta-globin gene cluster for those not associated with one of the three common deletions.Results: One hundred and thirty-one individuals had an increased Hb F level; among these, 51 (38.9%) were showed to have Chinese ((A)gamma delta beta)0-thalassemia (n = 37) or SEA deletion (n = 14). A single case of Hb Lepore-Boston-Washington was detected. MLPA only detected 2 deletions in three cases of the remaining 80 patients. Gap-PCR confirmed that they included a 1357 bp beta-globin gene deletion (NG_000007.3: g.69997_71353del1357) in one case and a HBG2-HBG1 fusion gene consisting of exons 1 and 2 of HBG2 ((G)gamma-globin gene) and exon 3 of HBG1 ((A)gamma-globin gene) (HBG2: c.315 + 573_HBG1: c.315 + 572del) in two cases.Conclusion: The Chinese ((A)gamma delta beta)0-thalassemia and SEA deletion are the most common large deletions of beta-globin gene cluster in Chinese. Gap-PCR for the detection of these two deletions should be used in thalassemia screening program in China where the incidence of beta-thalassemia is high.