西安地区582例16岁青少年血液易栓症基因筛查结果分析  

Analysis of Thrombophilia Gene Screening Results in Blood Samples of 58216-year-old Adolescents in Xi’an Area

作　　者：张奕辰 安宁 陈要臻 胡兴斌 ZHANG Yichen;AN Ning;CHEN Yaozhen;HU Xingbin(Department of Transfusion Medicine,the First Affiliated Hospital of Air Force Medical University,Xi’an 710032,China;Department of Clinical Medicine,Shaanxi University of Traditional Chinese Medicine,Shaanxi Xianyang 712046,China)

机构地区：[1]空军军医大学第一附属医院输血科,西安710032 [2]陕西省中医药大学临床医学系,陕西咸阳712046

出　　处：《现代检验医学杂志》2024年第6期201-205,共5页Journal of Modern Laboratory Medicine

基　　金：陕西省自然科学基础研究计划项目(2021JM-217)。

摘　　要：目的分析相关易栓基因抗磷脂抗体(antiphosphdipid antibody,APOH)、血栓调节蛋白(thrombo-regulatory protein,THBD)、PC抗凝蛋白(PC anticoagulant protein,PROC)等在青少年群体中的突变率,为易栓基因筛查用于青少年血栓性疾病预防诊治提供相应的理论依据。方法选取2019年5~12月接受体检的16岁青少年582例作为研究对象,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)基因分型检测技术及基因测序技术,对PROC c.574_576del,THBD c.-151G>T,APOHc.461G>A等基因位点进行检测,并对突变率进行统计分析。结果582例样本中经PCRRFLP基因分型检测发现,PROC c.574_576del突变率约为0.69%(4/582),低于中国人群的整体突变率2.4%;THBD c.-151G>T突变率为2.92%(17/582),高于中国人群的整体突变率0.97%;APOHc.461G>A突变率约为12.71%(74/582),高于中国人群的整体突变率10.27%。测序分析发现,APOHc.461G>A突变与APOHc.422T>C,APOHc.1004G>C突变连锁出现。结论青少年群体中易栓症基因突变率与整体人群易栓症基因突变率有明显差异,APOHc.461G>A,THBD c.-151G>T突变率明显高于中国人群的整体突变率,因此,对青少年血栓性疾病诊疗时应及时进行易栓症基因检测。Objective To analyze the mutation rates of thrombolytic genes antiphospholipid antibody(APOH),thrombo-regulatory protein(THBD)and PC anticoagulant protein(PROC),providing a theoretical basis for the prevention and treatment of thrombolytic diseases in adolescents.Methods A total of 582 cases 16-year-old adolescents who underwent routine physical examination from May to December 2019 were selected as the study objects.The gene loci such as PROC c.574_576del,THBD c.-151G>T and APOHc.461G>A were detected by PCR-RFLP genotyping detection and gene sequencing technology,and statistical analysis was performed on mutation rates.Results PCR-RFLP genotyping detecting of 582 samples showed that the mutation rate of PROC c.574_576del was about 0.69%(4/582),which was lower than the overall mutation rate in the Chinese population(2.4%),while the mutation rates of THBD c.-151G>T and APOHc.461G>A were about 2.92%(17/582)and 12.71%(74/582),which were higher than the overall mutation rates in Chinese population(0.97%,10.27%).Sequencing analysis showed that APOHc.461G>A mutation was linked with APOHc.422T>C and APOHc.1004G>C mutation.Conclusion The mutation rate of thrombolytic gene in adolescents is different from that of the whole population.The mutation rates of APOHc.461G>A and THBD c.-151G>T are higher than those of the whole Chinese population,indicating that timely detection should be used in the diagnosis and treatment of thrombolytic diseases in adolescents.

关 键 词：青少年 易栓症基因 血栓性疾病 分子遗传学 西安地区 

分 类 号：R543[医药卫生—心血管疾病] Q786[医药卫生—内科学]