title: [Identification of a novel aberrant spliceosome of MPL gene (MPLL391-V392ins12)in patients with myeloproliferative neoplasms].
abstract: OBJECTIVE
  To identify the MPL L391-V392ins12 spliceosome and analyze its frequencies in patients with myeloproliferative neoplasms (MPN).
  
  
  METHODS
  MPL aberrant spliceosome was identified through reverse transcription polymerase chain reaction (RT-PCR)combined with cloning sequencing. The mutation of this spliceosome in 248 MPN patients and 200 normal people was determined by allele-specific polymerase chain reaction (AS-PCR).
  
  
  RESULTS
  A novel aberrant spliceosome of MPL gene (MPL L391-V392ins12)was identified, i.e. 36 bp intron was retained between exon7 and exon8, and there were 12 amino acids (EGLKLLPADIPV)inserted. MPL L391-V392ins12 mutation was detected in 19 (7.66%)of the 248 patients with MPN, including 1 (1.92%) of 52 patients with PV, 14 (9.66%) of 145 with ET, and 4 (7.84%) of 51 with PMF. And the mutation was not detected in the group of 200 normal people.
  
  
  CONCLUSIONS
  MPL L391-V392ins12 spliceosome is an aberrant spliceosome present in the MPN. It can be detected in PV, ET and PMF, and more frequently in ET and PMF. This mutation may play an important role in the process of MPN.
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Ruiyuan
authors: R
authors: Tian
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Xiuhua
authors: X
authors: Chen
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Jianmei
authors: J
authors: Chang
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Na
authors: N
authors: Zhang
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Yanhong
authors: Y
authors: Tan
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Zhifang
authors: Z
authors: Xu
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Fanggang
authors: F
authors: Ren
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Junxia
authors: J
authors: Zhao
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Jie
authors: J
authors: Pan
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Haixiu
authors: H
authors: Guo
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Xiaojuan
authors: X
authors: Wang
authors: Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors: Hongwei
authors: H
authors: Wang
mesh_terms: D006801:Humans; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D017381:Spliceosomes
chemical_list: D053628:Receptors, Thrombopoietin