Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing.

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2024-07-01 Epub Date: 2024-07-15 DOI:10.1080/03630269.2024.2378078
Fan Jiang, Shuang Huang, Tuoen Liu, Jieyu Wang, Jianying Zhou, Liandong Zuo, Jian Li, Ru Li, Can Liao, Dongzhi Li
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引用次数: 0

Abstract

α-thalassemia major (α-TM) often causes Hb Bart's (c4) hydrops fetalis and severe obstetric complications in the mother. Step-wise screening for couples at risk of having offspring(s) affected by α-TM is the efficient prevention method but some rare genotypes of thalassemia cannot be detected. A 32-year-old male with low HbA2 (2.4%) and mild anemia was performed real-time PCR-based multicolor melting curve analysis (MMCA) because his wife was -SEA deletion carrier. The result of multiplex ligation-dependent probe amplification (MLPA) suggested the existence of -SEA deletion in the proband. A novel deletion of the α-globin gene cluster was found using self-designed MLPA probes combined with longer PCR, which was further accurately described to be 16.8Kb (hg38, Chr16:1,65,236-1,82,113) deletion by the third-generation sequencing. A fragment ranging from 1,53,226 to 1,54,538(GRch38/hg38) was identified which suggested the existence of the homologous recombination event. The third-generation sequencing is accurate and efficient in obtaining accurate information for complex structural variations.

通过第三代测序鉴定α-球蛋白基因簇的 16.8Kb 缺失。
α-重型地中海贫血(α-TM)通常会导致 Hb Bart's(c4)胎儿水肿和母亲严重的产科并发症。对有可能生育受 α-TM 影响的后代的夫妇进行分步筛查是一种有效的预防方法,但有些罕见的地中海贫血基因型却无法检测出来。一名 32 岁的男性患者 HbA2 偏低(2.4%)且患有轻度贫血,由于其妻子是 -SEA 缺失携带者,因此对其进行了基于实时 PCR 的多色熔解曲线分析(MMCA)。多重连接依赖性探针扩增(MLPA)的结果表明,该探针存在-SEA缺失。利用自行设计的 MLPA 探针结合长 PCR,发现了一个新的α-球蛋白基因簇缺失,通过第三代测序,进一步准确描述了该缺失为 16.8Kb (hg38, Chr16:1,65,236-1,82,113)。一个从 1,53,226 到 1,54,538 (GRch38/hg38)的片段被鉴定出来,表明存在同源重组事件。第三代测序技术能准确、高效地获取复杂结构变异的准确信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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