The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative NeoplasmsReportar como inadecuado

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LNK is an adapter protein negatively regulating the JAK-STAT cell signaling pathway. In this study, we observed the correlation between variation in LNK gene and the clinical type of myeloproliferative neoplasms MPN.


A total of 285 MPN cases were recruited, including essential thrombocythemia ET 154 cases, polycythemia vera PV 76 cases, primary myelofibrosis PMF 19 cases, and chronic myeloid leukemia CML 36 cases. Ninety-three healthy individuals were used as normal controls. V617F mutation in JAK2 was identified by allele-specific PCR method, RT-PCR was used for the detection of BCR-ABL1 fusion gene, and mutations and variations in coding exons and their flanking sequences of LNK gene were examined by PCR-sequencing.


Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET 4 cases, all combined with JAK2-V617F mutation, PV 2 cases, one combined with JAK2-V617F mutation, PMF one case, combined with JAK2-V617F mutation and CML one case, combined with BCR-ABL1 fusion gene. The genotype and allele frequencies of the three SNPs rs3184504, rs111340708 and rs78894077 in LNK were significantly different between MPN patients and controls. For rs3184504 T-C, in exon2, the T allele p.262W and TT genotype were frequently seen in ET, PV and PMF P<0.01, and C allele p.262R and CC genotype were frequently seen in CML P<0.01. For rs78894077 T-C, in exon1, the T allele p.242S was frequently found in ET P<0.05. For rs111340708 TGGGGx5-TGGGGx4, in intron 5, the TGGGG x4 allele was infrequently found in ET, PMF and CMLP<0.01.


Mutations in LNK could be found in some of MPN patients in the presence or absence of JAK2-V617F mutation. Several polymorphisms in LNK gene may affect the clinical type or the genetic predisposition of MPN.

Autor: Yan Chen , Fang Fang , Yang Hu, Qian Liu, Dingfang Bu, Mei Tan, Liusong Wu, Ping Zhu



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