儿童血液系统疾病端粒酶催化亚基基因序列分析  

The gene mutation of catalytic subunit of telomerase in children′s hematological diseases

作　　者：王红旭[1] 张鹏辉[2] 邹琳[3] 

机构地区：[1]重庆医科大学附属第一医院检验科,400016 [2]重庆医科大学附属儿童医院临检中心,400014 [3]重庆医科大学附属儿童医院分子中心,400014

出　　处：《检验医学与临床》2013年第23期3125-3126,共2页Laboratory Medicine and Clinic

基　　金：重庆市卫生局科研课题(2009-2-267);国家临床重点专科建设项目(财社[2010]305号)

摘　　要：目的分析人类端粒酶逆转录酶(htert)基因部分外显子突变序列在不同儿童血液系统疾病的特征与关系。方法对71例血液科住院患儿(含46例急性白血病和25例非白血病患儿)的外周血标本,成人急性髓系白血病(AML)高发突变的htert基因15号外显子区域进行测序,分析序列特征、突变与疾病的关系。结果 71例血液系统疾病患儿htert基因15号外显子序列分析中,46例急性白血病患儿未发现该区域的突变。25例非白血病患儿中,2例再生障碍性贫血患儿发现5号染色体1254714位置碱基C杂合突变为A,该位点距离htert基因15号外显子转录起始位点上游91bp。结论成人AML患者htert基因高突变区在儿童急性白血病中突变率低;htert基因杂合突变可能与端粒相关的再生障碍性贫血有关,值得进一步研究。Objective To study the gene mutation of catalytic subunit of human telomerase reverse tran- scriptase（htert） in childrenrs hematological diseases, and gain a further insight about the relationship between htert and hematological diseases in children. Methods The peripheral blood samples from 71 hematological kids including 46 cases with acute leukemic and 25 non-leukemic cases were collected. The 15th exon of htert reported of high muta- tional rate in adult acute myeloid leukemia（AML） was sequenced. The association of htert mutation and hematologi- cal diseases was further evaluated. Results Among the 25 non-leukemic cases,there were 2 aplastic anemia patients carried with C-A mutation on the 1254714 site of 5th chromosome which lies 91bp upstream away from the 15th exon of htert. However, none mutations of this region were detected in 46 acute leukemic patients. Conclusion The 2 aplastic anemia patients carried with the same mutation in the 1254714 site of chromosome 5,suggesting this muta- tion might correlate with aplastic anemia and deserve further study. There are differences between childhood and adult acute leukemia considering gene mutations of htert, which is of high mutational rate in adult but with low mutation rate in children＇s acute leukemia.

关 键 词：再生障碍性贫血 急性白血病 人类端粒酶逆转录酶 基因突变 

分 类 号：R733.71[医药卫生—肿瘤]