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体细胞基因JAK2V617F突变是诊断骨髓增殖性疾病(MPD)最主要的分子生物学标志。本研究旨在探索中国MPD患者中JAK2V617F是否与46/1 JAK2基因单体型(rs12343867,简称46/1)基因易感性相关,确定46/1在MPD患者及健康汉族、藏族、裕固族人群中的分布。采集了150例JAK2V617F突变阳性的MPD患者、123例JAK2V617F突变阴性的MPD患者、124例健康汉族人、395例健康藏族人及315例健康裕固族人的外周血或者骨髓样本,建立了一种能够同时分析JAK2V617F和46/1是否位于同一等位基因上的ARMS-PCR方法,比较有和无JAK2V617F基因突变的MPD患者46/1 JAK2基因单体型检出率的差异,分析中国健康汉族、藏族、裕固族人群中46/1 JAK2基因单体型的分布特征。结果显示:在150例能检出JAK2V617F突变的MPD患者中,有88例(58.67%)的JAK2V617F突变发生在46/1基因单体型上。在814例健康中国人中,46/1基因单体型的检出率为38.37%,3个民族中的检出率无差别,健康人中未检测出JAK2V617F突变。在JAK2V617F突变阴性的MPD患者中46/1单体型的检出率为43.09%,而在JAK2V617F突变阳性的MPD患者中46/1基因单体型的检出率为69.33%,远高于JAK2V617F突变阴性的MPD患者和健康人。结论:建立了一种能够同时分析JAK2V617F和46/1是否位于同一等位基因上的ARMS-PCR方法;中国MPD患者JAK2V617F基因突变大部分发生在46/1等位基因上;46/1单体型在中国健康汉族人、藏族人及裕固族人中分布没有明显差异。
Somatic gene JAK2V617F mutation is the diagnosis of myeloproliferative disorders (MPD) the most important molecular biological markers. This study was designed to investigate whether JAK2V617F is associated with susceptibility to 46/1 JAK2 gene haplotype (46/1) in Chinese MPD patients and to determine whether 46/1 is associated with MPD and healthy Han, Tibetan and Yugur populations Distribution. A total of 150 MPD patients with JAK2V617F mutation, 123 MPD patients with JAK2V617F mutation negative, peripheral blood or bone marrow samples from 124 healthy Han, 395 healthy Tibetan and 315 healthy Yugur people were collected, To analyze whether the JAK2V617F and 46/1 are located in the same allele ARMS-PCR method to compare the 46/1 JAK2 haplotype detection rate with MPD patients without JAK2V617F mutation, and to analyze the differences of haplotype detection between Chinese healthy Han, Tibetan, Distribution Characteristics of 46/1 JAK2 Gene Haplotype in Yugur Population. The results showed that in 150 cases of MPD patients with JAK2V617F mutation, 88 (58.67%) JAK2V617F mutations occurred on the 46/1 gene haplotype. In 814 healthy Chinese, the detection rate of 46/1 gene haplotype was 38.37%. There was no difference in the detection rate among the three ethnic groups. No JAK2V617F mutation was detected in healthy people. The detection rate of 46/1 haplotype was 43.09% in MPD patients with JAK2V617F mutation negative, while the detection rate of 46/1 gene haplotype in MPD patients with JAK2V617F mutation was 69.33%, much higher than that of JAK2V617F Mutant negative MPD patients and healthy people. Conclusion: An ARMS-PCR method was established to analyze whether JAK2V617F and 46/1 are located on the same allele simultaneously. Most mutations in JAK2V617F gene in Chinese MPD patients occurred on the 46/1 allele. The 46/1 monomer There was no significant difference in the distribution of healthy Han, Tibetan and Yugur people in China.