title: [Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].
abstract: 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, RPL11, RPS7, RPL35a, RPS10 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, RPL11 and RPL35A mutations were identified respectively in 1 of the patient. No mutations were detected in RPS17, RPS10 or RPS26 genes. Thumb anomalies were found in 2 patients with RPL11 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 RPL11 and RPL5 mutations.
authors.affiliation: Center for Diagnosis and Therapy of Childhood Blood Diseases, Blood Disease Hospital & Institute of Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Min
authors.initials: M
authors.lastname: Ruan
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Ye
authors.initials: Y
authors.lastname: Guo
authors.forename: Shu-Chun
authors.initials: SC
authors.lastname: Wang
authors.forename: Xiao-Juan
authors.initials: XJ
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Tian-Feng
authors.initials: TF
authors.lastname: Liu
authors.forename: Xiao-Fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D012269:Ribosomal Proteins