胎儿血红蛋白数量性状相关基因的研究进展

doi:10.3724/SP.J.1005.2010.00295

遗传 ›› 2010, Vol. 32 ›› Issue (4): 295-300.doi: 10.3724/SP.J.1005.2010.00295

胎儿血红蛋白数量性状相关基因的研究进展

郭晓强

解放军白求恩军医学院生化教研室, 石家庄 050081

收稿日期:2009-08-13 修回日期:2009-09-24 出版日期:2010-04-20 发布日期:2010-04-15
通讯作者: 郭晓强 E-mail:xiaoqiangguo123@163.com

Progress on genes related to fetal hemoglobin quantitative trait

GUO Xiao-Jiang

Department of Biochemistry, Bethune Military Medical College, Shijiazhuang 050081, China

Received:2009-08-13 Revised:2009-09-24 Online:2010-04-20 Published:2010-04-15
Contact: GUO Xiao-Jiang E-mail:xiaoqiangguo123@163.com

摘要/Abstract

摘要： 胎儿血红蛋白(HbF)是一种主要在胎儿期间大量存在的血红蛋白, 但成年后含量极少, 然而少量人群及部分镰刀型贫血和地中海贫血患者体内仍保留一定量的HbF, 其存在对缓解贫血临床并发症具有重要益处。以往研究已经确定影响HbF数量性状的基因座定位于6q23和2p15, 而最新的一系列研究表明, 定位于6q23的HBS1L-MYB和2p15的BCL11A与HbF含量关联最高。这些研究一方面有助于理解HbF表达机理, 另一方面也为镰刀型贫血的治疗提供了潜在的药物靶点。文章对HbF表达的数量性状相关基因的研究现状及潜在应用进行了综述

关键词: 中海贫血, 胎儿血红蛋白, 基因间多态性, CL11A, 刀型贫血

Abstract: Fetal hemoglobin (HbF) is the main type of hemoglobin in the fetus and few in adult, but retains high levels in some people and patients with β-thalassemia major or sickle cell disease. High HbF levels are beneficial to ameliorating the disease severity of the anemia. Previous researches had established that quantitative trait loci were associated with 6q23 and 2p15. Recent researches indicated that HBS1L-MYB in 6q23 and BCL11A in 2p15 are highly correlated to HbF levels. These discoveries not only help to understanding of mechanism in HbF expression, but also provide potential drug targets for therapy of sickle cell disease. The progress on genes related to fetal hemoglobin quantitative trait and potential applications was summarized in this review.

Key words: ntergenic polymorphism, CL11A, -thalassemia major, ickle cell disease, fetal hemoglobin

郭晓强. 胎儿血红蛋白数量性状相关基因的研究进展[J]. 遗传, 2010, 32(4): 295-300.

GUO Xiao-Qiang. Progress on genes related to fetal hemoglobin quantitative trait[J]. HEREDITAS, 2010, 32(4): 295-300.

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胎儿血红蛋白数量性状相关基因的研究进展

Progress on genes related to fetal hemoglobin quantitative trait

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