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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 aimed to investigate ribosomal protein gene mutations in patients with congenital Diamond-Blackfan anemia (DBA). Nineteen ribosomal protein genes (RPS19, RPS24, RPS17, RPL5, RPL11, RPS7, RPL35a, RPS10 and RPS26) associated with this disease were studied in 21 DBA patients diagnosed and treated between December 2008 and April 2012 in our hospital. Detection. The results showed that in 21 patients, 8 cases of ribosomal protein gene mutation occurred, the mutation rate was 38.1%, of which 3 cases of RPS19 gene mutation, RPS24, RPS7, RPL5, RPL11, RPL35a mutation in 1 case. No RPS17, RPS10 and RPS26 gene mutations were detected in this group of patients. Patients with RPL11 and RPL5 mutations were associated with six-finger deformity and toe deformity, respectively. One patient with RPS19 mutation had hypospadias. Conclusion: The incidence of ribosomal protein gene mutations in patients with DBA is lower than that in western countries in this study. Some patients with RPS19 mutations may develop hypospadias. The mutations of RPL11 and RPL5 are associated with deformity of digits.