骨髓增殖性肿瘤患者蛋白酪氨酸磷酸酶1B基因突变分析

Analysis of protein tyrosine phosphatase 1B gene mutation in myeloproliferative neoplasms

目的 分析骨髓增殖性肿瘤（MPN）患者中蛋白酪氨酸磷酸酶1B（PTP1B）基因突变情况.方法 采用DNA测序技术检测84例MPN患者及37例健康对照者PTP1B的DNA序列.结果 MPN患者及健康对照者均未检测到Exon1 ～6、Exon9和Exon10突变.MPN患者中有18例检测到Exon8 C/T杂合性突变,健康对照者中有10例检测到C/T杂合性突变,两组之间差异无统计学意义（x 2=0.453,P=0.501）.38例患者进行了Exon7基因测序,2例有C/T杂合性突变,健康对照者中有1例G/C杂合性突变.所有受试者均未检测到纯合性突变.结论 MPN患者PTP1B基因突变与健康对照者相比没有明显差异.

Objective To analyse protein tyrosine phosphatase 1B （PTP1B） gene mutation in myeloproliferative neoplasms （MPN）.Methods DNA sequencing technology was used to detect DNA sequences of PTP1B in MPN patients （n =84） and normal controls （n =37）.Results For Exon1-6,Exon9 and Exon10,84 cases of MPN patients and 37 cases of control group were not detected mutation.For EXON 8,18 of 84 MPN patients had Exon8 C/T heterozygous mutation and 10 of 37 normal controls were detected C/T heterozygous mutation.There was no significant difference between MPN patients and normal controls （x2 =0.453,P =0.501）.Exon7 was detected in 38 MPN patients and 2 cases of patients were found C/T heterozygous mutation,while in the control group,1 case with G/C heterozygous mutation.All of the cases were not detected homozygous mutation.Conclusion Using DNA sequencing technology to detect gene mutations of PTP1B,there is no significant difference between MPN patients and normal controls.