Variation and Clinical Significance of LNK Gene in Essential Thrombocytosis

OBJECTIVE To explore the mutation and single nucleotide polymorphism(SNP) of LNK gene in the patients with essential thrombocytosis (ET), and to analyze the relationship between LNK gene variation and the occurrence of ET. METHODS JAK2V617F mutation was identified by allele-specific PCR. The whole exon of LNK gene was amplified by PCR. The amplified sequences included the Rs3184504 (C/T) and Rs78894077 (A/C/G/T) affecting the expression of amino acids in LNK gene, and the Rs7973120 (A/T) unaffecting the expression of amino acids. The mutation and SNP of LNK gene were analyzed by DNA sequencing. RESULTS Six cases of ET had LNK mutation, including four types: A300V, R425C, V402L and R426Q. T allele distribution of SNP Rs78894077 Ser in ET group was statistically significantly higher than that in the control group (P<0.05). T allele frequency of SNP Rs3184504 Ser in ET group was higher than that in the control group(P<0.05). CONCLUSION LNK mutations exist in ET patients, and the T allele gene carrying LNK SNP Rs78894077 Ser and Rs3184504 Ser in persons may increase the risk of ET.