遗传性铁粒幼细胞贫血研究进展及基因治疗的可能性  

Progress of Study on Sideroblastic Anemia and Its Possible Gene Therapy——Review

作　　者：王逸群[1] 朱平[1] 

机构地区：[1]北京大学第一医院血液内科,北京100034

出　　处：《中国实验血液学杂志》2005年第3期524-528,共5页Journal of Experimental Hematology

摘　　要：δ氨基γ酮戊酸合酶(ALAS)是血红蛋白合成重要的限速酶,目前发现实际有两种ALAS,真正影响血红素合成的是δ氨基γ酮戊酸合酶2(ALAS2)。X连锁铁粒幼细胞贫血(XLSA)与ALAS2的基因突变有明确的关系,近年陆续报道25种可导致XLSA的ALAS2的基因突变,其中两种是本课题组首次报道的。针对这种明确的单基因疾病有可能开展基因治疗。It was thought that δ-aminolevulinate synthase (ALAS) is the rate-limiting enzyme in the heme biosynthetic pathway. Actually there are two isozymes of ALAS and ALAS2 (erythroid δ-aminolevulinate synthase),they play the leading role in the hemoglobin biosynthetic pathway. Mutations in ALAS2 gene causes X-linked sideroblastic anemia (XLSA). About 25 different mutations in ALAS2 gene have been identified in XLSA patients and two of them were reported by our laboratory. It is possible to cure the patients with XLSA by gene therapy because it is a single gene disorder.

关 键 词：遗传性铁粒幼细胞贫血 X连锁遗传性铁粒幼细胞贫血 ALAS2 基因突变 基因治疗 

分 类 号：R556.9[医药卫生—血液循环系统疾病] R596.1[医药卫生—内科学]