中国汉族人vWF基因内可变数目串联重复序列的研究  

Study on the variable number tandem repeats of vWF gene in Chinese Han nationality

作　　者：王迎春[1] 李震宇[1] 王泳[1] 万海英[1] 顾建明[1] 台虹 阮长耿[1] 

机构地区：[1]苏州医学院附属第一医院,江苏省血研所血栓与止血研究室,苏州215006 [2]云南省人民医院检验科,昆明650091

出　　处：《中国实验血液学杂志》1998年第4期293-296,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金

摘　　要：用聚合酶链反应(PCR)和聚丙烯酰胶凝胶电泳(PAGE)的方法,研究了71名中国汉族人142条染色体的vWF基因40号内含子的可变数目串联重复序列(VNTR)。中国人群vWF基因内存在ATCT的串联重复序列,其VNTR存在14,13,12,11,10,9,8和7等八种等位基因,总的理论杂合率为79.4％。该VNTR携带遗传信息量大,作为血管性血友病的遗传指标之一对vWD的遗传咨询和产前诊断具有应用价值。To explore the variable number tandem repeats (VNTR) of nucleotide sequence ATCT within intron 40 of von Willebrand factor gene in Han Chinese, polymerase chain reaction (PCR) and polyacrylamide gel elec-trophoresis (PAGE) were used to examine the VNTR in 71 individuals. Eight different length allelic bands were observed, which contain ATCT repeats ranging from 7 to 14. The frequencies of the alleles are different in Chinese, compared with white European. Total theoretical heterozygous frequency is 79. 4%. Detection of number of the VNTR is valuable for the carrier detection and prenatal diagnosis in von Willebrand disease fami- ly.

关 键 词：血管性血友病 von WILLEBRAND因子 VWF基因 可变数目串联重复序列 遗传咨询 遗传性出血性疾病 

分 类 号：R554.1[医药卫生—血液循环系统疾病] Q344.12[医药卫生—内科学]