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.
出处
《中国实验血液学杂志》
CAS
CSCD
1998年第4期293-296,共4页
Journal of Experimental Hematology
基金
国家自然科学基金
