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学科主题: 临床医学
题名:
An Alu Element-Mediated 28.5 kb alpha-Thalassemia Deletion Found in a Chinese Family
作者: 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
发表日期: 2014
DOI: 10.3109/03630269.2014.976793
卷: 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
所属项目编号: 81272840 ; 81201579
项目资助者: National Natural Science Foundation of China ; Young Scientists Fund of the National Natural Science Foundation of China
WOS记录号: WOS:000345306500009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/49920
Appears in Collections:北京大学深圳医院_期刊论文

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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

Recommended Citation:
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.
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