Article
Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.
Molecular genetics and genomics : MGG - 1 Jun 2016
Hu Lingling, Shang Xuan, Yi Sheng, Cai Ren, Li Zhetao, Liu Cuixian, Liang Yidan, Cai Decheng, Zhang Feng, Xu Xiangmin
Abstract excerpt
Copy number variations (CNVs) can cause many genetic disorders and the structure analysis of unknown CNVs is important for clinical diagnosis. The human α-globin gene cluster lies close to the telomere of the short arm on chromosome 16. Copy number variations of this region produce excessive or insufficient α-globin chains which imbalances the β-globin chains, resulting in thalassemia. However, these CNVs usually...
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