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An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family
Yu, Jing1; Xie, Jun1; Luo, Liya2; Li, Zesong2
关键词Alu Element Alpha-globin Gene Alpha-thalassemia (Alpha-thal) Deletion Homologous Recombination
刊名HEMOGLOBIN
2014
DOI10.3109/03630269.2014.976793
38期:6页:427-430
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Hematology
研究领域[WOS]Biochemistry & Molecular Biology ; Hematology
关键词[WOS]GLOBIN GENE-CLUSTER ; DEPENDENT PROBE AMPLIFICATION ; MOLECULAR CHARACTERIZATION ; HBH DISEASE ; RECOMBINATION ; BREAKPOINTS ; PATIENT
英文摘要

Over 95.0% of the alpha-thalassemia (alpha-thal) cases in southern China are caused by large deletions involving the alpha-globin gene. Here, we describe the molecular characterization of a novel 28.5 kb deletion that eliminated one of the duplicated alpha-globin genes in a Chinese family. The deletion breakpoint fragment involved Alu repeat sequences, suggesting a homologous recombination event. Phenotypic analysis on the heterozygous carrier of this deletion revealed that it leads to a very mild phenotype. Because of a 25.0% risk of Hb H (beta 4) disease in the offspring when in combination with another alpha(0)-thal allele, we should not ignore screening the deletion in prenatal diagnosis in order to decrease reproductive risk.

语种英语
WOS记录号WOS:000345306500009
项目编号81272840 ; 81201579
资助机构National Natural Science Foundation of China ; Young Scientists Fund of the National Natural Science Foundation of China
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/49920
专题北京大学深圳医院
作者单位1.Peking Univ, Shenzhen Hosp, Dept Lab Med, Shenzhen, Peoples R China
2.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen Key Lab Genitourinary Tumor, Shenzhen 518035, Guangdong, Peoples R China
推荐引用方式
GB/T 7714
Yu, Jing,Xie, Jun,Luo, Liya,et al. An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family[J]. HEMOGLOBIN,2014,38(6):427-430.
APA Yu, Jing,Xie, Jun,Luo, Liya,&Li, Zesong.(2014).An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family.HEMOGLOBIN,38(6),427-430.
MLA Yu, Jing,et al."An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family".HEMOGLOBIN 38.6(2014):427-430.
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