Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review
Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review
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16号染色体α珠蛋白基因簇拷贝数变异机制研究：两例报道及文献复习
DOI：
10.1007/s00438-022-01968-1
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发表时间：
2022-11
影响因子：
3.1
通讯作者：
Shang Xuan
中科院分区：
文献类型：
--
作者：
Zhu Dina;Xu Linlin;Zhang Yanxia;Liang Guanxia;Wei Xiaofeng;Li Liyan;Jin Wangjie;Shang Xuan
地中海贫血是全球最常见的单基因疾病之一。地中海贫血的一个重要遗传病因是α-珠蛋白基因簇的拷贝数变异（CNV）。然而，对于详细信息并没有统一的总结和讨论。
Thalassemia is one of the most common single-gene disorder worldwide. An important genetic cause of thalassemia is copy number variations (CNVs) in the α-globin gene cluster. However, there is no unified summary and discussion on the detailed information and mechanisms of these CNVs. In this study, two novel CNVs, a tandem duplication (αααα159) and deletion (--259), were identified in two Chinese families with thalassemia patients, according to the results of hematologic analysis, routine genetic testing for thalassemia, multiplex ligation-dependent probe amplification (MLPA), next-generation sequencing (NGS) and other molecular methods. Co-inherited with βCD41–42mutation and --SEAdeletion separately, αααα159and --259resulted in a patient with β-thalassemia intermedia and a lethal fetus with Hb Bart’s hydrops fetalis syndrome, respectively. Next, a literature review was performed to summarize all known CNVs involving the α-globin gene cluster. The molecular structure characteristics of these CNVs were analyzed and the possible mechanism was explored. It is the first time to analyze the generation mechanism of genome arrangements in the α-globin gene cluster systematically.
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影响因子：
2.4
作者：
Tesio, Nicolo;Bauer, Daniel E.
通讯作者：
Bauer, Daniel E.
影响因子：
1
作者：
B. Eng;Robert Walsh;Lynda Walker;M. Patterson;J. Waye
通讯作者：
B. Eng;Robert Walsh;Lynda Walker;M. Patterson;J. Waye
影响因子：
3.4
作者：
Jia, SQ;Li, J;Xu, XM
通讯作者：
Xu, XM
影响因子：
1
作者：
Ying Zhao;J. Lou;Manna Sun;Youqing Fu;Wan-Ling Ye;Yanjin Li;Yunshi Dai;Yanhui Liu
通讯作者：
Ying Zhao;J. Lou;Manna Sun;Youqing Fu;Wan-Ling Ye;Yanjin Li;Yunshi Dai;Yanhui Liu
中间型地中海贫血是由β-地中海贫血突变和父系等位基因中α-珠蛋白基因的从头重复共同遗传引起的
影响因子：
6.5
作者：
Pang Dejian;Shang Xuan;Cai Decheng;Zhu Fei;Cheng Yi;Zhong Jianmei;Yi Sheng;Zhang Qianqian;Xu Xiangmin
通讯作者：
Xu Xiangmin