Characterization of two novel Alu element-mediated &#945;-globin gene cluster deletions causing &#945;<sup>0</sup>-thalassemia by targeted next-generation sequencing.

Li, Zhiming; Shang, Xuan; Luo, Shiqiang; Zhu, Fei; Wei, Xiaofeng; Zhou, Wanjun; Ye, Yuhua; Yan, Tizhen; Cai, Ren; Xu, Xiangmin

Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α⁰-thalassemia by targeted next-generation sequencing.

Li, Zhiming; Shang, Xuan; Luo, Shiqiang; Zhu, Fei; Wei, Xiaofeng; Zhou, Wanjun; Ye, Yuhua; Yan, Tizhen; Cai, Ren; Xu, Xiangmin.

Afiliação

Li Z; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Shang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Luo S; Guangdong Genetics Testing Engineering Research Center, Guangzhou, 510515, Guangdong, China.
Zhu F; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, 545001, Guangxi, China.
Wei X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Zhou W; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Ye Y; Guangdong Genetics Testing Engineering Research Center, Guangzhou, 510515, Guangdong, China.
Yan T; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Cai R; Guangdong Genetics Testing Engineering Research Center, Guangzhou, 510515, Guangdong, China.
Xu X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.

Mol Genet Genomics ; 295(2): 505-514, 2020 Mar.

Article em En | MEDLINE | ID: mdl-31897801

Assuntos

Elementos Alu/genética; Anemia/genética; alfa-Globinas/genética; Talassemia alfa/genética; Adulto; Anemia/sangue; Anemia/patologia; Variações do Número de Cópias de DNA/genética; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Pessoa de Meia-Idade; Família Multigênica/genética; Linhagem; Mutação Puntual/genética; Deleção de Sequência/genética; Talassemia alfa/sangue; Talassemia alfa/patologia

Palavras-chave

Breakpoints; Copy number variations; Multi-species conserved sequence; Rearrangement mechanisms; Targeted next-generation sequencing; α-thalassemia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Talassemia alfa / Elementos Alu / Alfa-Globinas / Anemia Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China País de publicação: Alemanha

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