Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families-Reference-Cited by-同舟云学术

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Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families

Published:2016-03-21 Issue:3 Volume:291 Page:1443-1450
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Hu Lingling,Shang Xuan,Yi Sheng,Cai Ren,Li Zhetao,Liu Cuixian,Liang Yidan,Cai Decheng,Zhang Feng,Xu Xiangmin

Funder

National Natural Science Foundation of China

Science and Technology Program of Guangzhou

the Special Project on the Integration of Industry, Education and Research of Guangdong Province

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-016-1193-0.pdf

Reference17 articles.

1. Blattner A, Brunner-Agten S, Ludin K, Hergersberg M, Herklotz R, Huber AR, Röthlisberger B (2013) Detection of germline rearrangements in patients with α-and β-thalassemia using high resolution array CGH. Blood Cells Mol Dis 51:39–47

2. Chen XW, Mo QH, Li Q, Zeng R, Xu XM (2007) A novel mutation of -73(A→T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. Ann Hematol 86:653–657

3. Chen W, Zhang X, Shang X, Cai R, Li L, Zhou T, Sun M, Xiong F, Xu X (2010) The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet 11:31

4. Harteveld C, Refaldi C, Cassinerio E, Cappellini M, Giordano P (2008) Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol Dis 40:312–316

5. Higgs DR (2013) The molecular basis of α-thalassemia. Cold Spring Harbor Perspect Med 3:a011718

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient;Hemoglobin;2024-05

2. The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants;Clinica Chimica Acta;2023-11

3. Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia;Archives of Pathology & Laboratory Medicine;2023-06-01

4. A novel α Globin Gene Cluster Duplication, αααα³⁸⁰ Heterozygous β⁰-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype;Hemoglobin;2023-03-04

5. Genetic Basis and Molecular Diagnosis of Hemoglobinopathies;Reference Module in Biomedical Sciences;2023

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