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与胎儿珠蛋白基因持续表达有关的新型(Aγδβ)°-地贫基因缺失的鉴别

Molecular Characterization of a Novel Form of (Aγδβ)°-Thalassemia Deletion Associated with Persistant Expression of Fetal Globin Gene

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【作者】 张俊武赵艳君吴冠芸阎志杰陈松森宋文风邱志明王方年汪宁徐文安周秀贞

【Author】 Zhang Junwu;Zhao Yanjun;Wu Guanyun;Yan Zhijie;Chen Songsen;Song Wenfeng;Qiu Zhiming;Wang Fangnian;Wang Ning;Xu Wenan;Zhou Xiouzhen;Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences;Kunming Medical College;

【机构】 中国医学科学院基础医学研究所昆明医学院

【摘要】 在中国云南省鉴别了一种与胎儿珠蛋白基因在成人中持续活跃表达有关的新型(Aγδβ)°-地贫缺失,除去了包括Ar、Ψβ、δ及β珠蛋白基因在内的共约90kbDNA。缺失的5’断点位于Ar基因上游区约0.13kb。3’断点位于β基因下游区约66kb,即在已知的Chinese (Aγδβ)°-地贫缺失的3’断点上游区13±0.5kb。讨论了这一缺失导致的人胎儿Gr基因持续表达的可能机制。

【Abstract】 A novel deletion in the β-globin gene cluster that increases fetal hemoglobin (HbF) synthesis is identified in a Chinese family in Yunnan province and molecularly. The propositus is a homozygole for this deletion mutation, with a mild anemia, hypchromia and microcytosis (MCH=21.3 pg, MCV=67 fl). The other members in the family are heterozygotes for this mutation, having 9% to 17% HbF with heterocellular distribution, and showing only very light or no anemia. Extensive restriction endonuclease mapping shows the deletion spans about 90 kb of DNA, inclued Aγ, ψβ, δ and β-globin genes. The 5′ breakpoint of the deletion is located upstream about 0.13 kb from the Aγ-globin gene. The 3’ breakpoint of the deletion is located downstream about 66 kb from the β-globin gene, i. e. upstream about 13±0.5 kb from that of the Chinese (Aγδβ)°-thalassemia deletion reported previously. Possible mechanisms of active expression of the fetal globin gene in adult life caused in by the deletion are discussed.

【基金】 国家自然科学基金
  • 【文献出处】 高技术通讯 ,High Technology Letters , 编辑部邮箱 ,1993年03期
  • 【分类号】R440;R725.1
  • 【下载频次】9
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