21例先天性纯红细胞再生障碍性贫血核糖体蛋白基因突变分析  

Analysis of Mutations of Ribosomal Protein Genes in 21 Cases of Diamond-Blackfan Anemia

作　　者：陈玉梅 阮敏 邹尧 郭晔 王书春 陈晓娟 张丽 刘天峰 竺晓凡 

机构地区：[1]中国医学科学院、北京协和医学院血液学研究所,血液病医院儿童血液病诊疗中心,天津300020

出　　处：《中国实验血液学杂志》2012年第6期1414-1418,共5页Journal of Experimental Hematology

基　　金：天津市自然科学基金项目(编号10JCYBJC12600);2010-2012卫生部部属(管)医院学科重点项目;国家自然科学基金面上项目(编号81170470)

摘　　要：本研究旨在探讨先天性纯红细胞再生障碍性贫血(Diamond-Blackfan anemia,DBA)患者的核糖体蛋白基因突变。对我院2008年12月至2012年4月期间诊治的21例DBA患者进行9个与本病相关的核糖体蛋白基因(RPS19、RPS24、RPS17、RPL5、RPL11、RPS7、RPL35a、RPS10和RPS26)检测。结果表明,在21例患者中,有8例发生了核糖体蛋白基因突变,突变率为38.1%,其中RPS19基因突变3例,RPS24、RPS7、RPL5、RPL11、RPL35a突变各1例。在本组患者中未检测到RPS17、RPS10和RPS26基因突变。RPL11及RPL5突变患者分别伴有六指畸形、足趾畸形,1例RPS19突变患者伴有尿道下裂。结论:本研究中DBA患者核糖体蛋白基因突变发生率低于西方国家,部分RPS19突变患者可发生尿道下裂,RPL11及RPL5突变与指趾畸形相关。This study was aimed to explore the mutations of ribosomal protein （RP） genes in patients with Diamond Blackfan anemia （DBA）. Twenty-one cases of DBA admitted in our hospital from Dec 2008 to Aug 2012 were screened by PCR for mutations in the nine known genes associated with DBA- RPS19, RPS24, RPS17, RPL5, RPLll, RPS7, RPL35a, RPSl0 and RPS26. The results found that 8 patients （38.1% ） with DBA had mutations in the genes coding for ribosomal protein, in which RPS19 mutation was identified in 3 patients, RPS24, RPS7, RPL5 ,RPLll and RPL35A mutations were identified respectively in 1 of the patient. No mutations were detected in RPS17, RPSIO or RPS26 genes. Thumb anomalies were found in 2 patients with RPLll or RPL5 mutation, and hypospadias was found in 1 patient with RPS19 mutation. It is concluded that the mutation frequency of the genes coding for ribosomal protein in the patients with DBA here is lower than that in western countries. The hypospadias can be observed in some patients with RPS19 mutation and some dactyl anomalies are associated with RPLll and RPL5 mutations.

关 键 词：先天性纯红细胞再生障碍性贫血 核糖体蛋白基因 基因突变 

分 类 号：R556.5[医药卫生—血液循环系统疾病]