骨髓增殖性肿瘤患者蛋白酪氨酸磷酸酶1B基因突变分析

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.

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

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.