先天性纯红细胞再生障碍性贫血分子诊断研究进展  

Progress in molecular diagnosis of Diamond-Blackfan anemia

作　　者：黄忠平(综述) 王宏胜(审校) Huang Zhongping;Wang Hongsheng(Department of Pediatrics,the Affiliated Fuzhou First Hospital of Fujian Medical University,Key Neonatal Department of Fuzhou,Fuzhou 350009,China;Department of Hematology,National Children′s Medical Center,Children′s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]福建医科大学附属福州市第一医院儿科福州市新生儿重点科室,350009 [2]国家儿童医学中心复旦大学附属儿科医院血液科,上海201102

出　　处：《国际儿科学杂志》2022年第5期315-319,共5页International Journal of Pediatrics

摘　　要：先天性纯红细胞再生障碍性贫血(Diamond-Blackfan anemia,DBA)是一种罕见的遗传性贫血,约90%的病例在婴儿期出现症状。70%~80%病例存在基因异常,主要是常染色体显性遗传,少数呈隐性或X连锁遗传。DBA的基因突变主要为核糖体蛋白基因的突变和缺失,编码核糖体的RP基因中已发现20余个与DBA相关的突变基因,其中RPS19基因突变最为常见。另外还有与核糖体功能有关的TSR2基因以及与DBA样表型相关的非RP基因,如GATA1、EPO和ADA2基因。这些基因均在红系细胞的分化和增殖中起关键作用。分子诊断是最终确诊和区别经典型和非经典DBA的重要标准。该文对DBA的遗传学、基因突变和分子诊断的研究进展进行综述。Diamond-Blackfan anemia(DBA)is a rare hereditary anemia.About 90%of them have symptoms in infancy,and about 50%are complicated with congenital malformations.Genetic abnormalities were found in 70%to 80%of DBA cases,mainly autosomal dominant inheritance,and a few were recessive or X-linked inheritance.The main gene mutations of DBA are ribosomal protein gene mutations and deletions.More than 20 mutation genes related to DBA have been found in the ribosomal protein(RP)gene encoding ribosome,of which RPS19 gene mutation is the most common.In addition,there are TSR2 genes related to ribosome function and non-RP genes related to DBA like phenotype,such as GATA1,EPO and ADA2 genes.These genes play a key role in the differentiation and proliferation of erythroid cells.Molecular diagnosis is an important criterion to diagnose and distinguish classical DBA from non-classical DBA.This review summarizes the latest research progress in the genetics,gene mutation and molecular diagnosis of DBA.

关 键 词：先天性纯红细胞再生障碍性贫血 核糖体病 基因突变 诊断 

分 类 号：R55[医药卫生—血液循环系统疾病]