摘要
目的 :探讨东北地区健康人群FⅧ基因内含子 13的二核苷酸CA重复多态分布 ,为甲型血友病基因诊断提供依据。方法 :应用同位素 (α 3 2 PdCTP)掺入的PCR方法检测无遗传关系的健康汉族个体 44例 ,男 3例 ,女41例 ,总计 85条X染色体。结果 :检出 7种不同长度的等位基因片段 ,其长度在 130～ 15 0bP之间 ,从最短片段开始 ,依次为A ,B ,C ,D ,E ,F ,G。各等位基因频率为 :A :0 .0 2 35 ,B :0 .76 47,C :0 .0 2 35 ,D :0 .0 471,E :0 .0 70 6 ,F :0 .0 5 88,G :0 .0 118。计算可提供信息量为 40 .16 % ,实际检测到的杂合子率为 39.0 2 % (16 /4 1)。结论 :FⅧ基因内含子 13(CA)
Objective: We investigated the distribution of intron 13 (CA)n polymorphism of factor Ⅷ (FⅧ) gene in healthy Han people in northeast of china, in order to provide a proof for genetic diagnosis of Haemophilia A. Methods: We detected 85 chromosomes in 44 healthy han persons with no relationship to each other by using PCR labeling α 32 P dCTP method, including 3 men and 41 women. Results: Seven allelic fragments of the different length were detected. The length was ranged from 130 to 150 bp. The shortest allelic fragments were named A,B,C,D,E,F,G. The allelic gene frequencies of A was 0.0235, B was 0.7647, C was 0.0235, D was 0.0471, E was 0.0706, F was 0.0588, G was 0.0118. The polymorphism information contents was 40.16%, and the actually detected heterzygosity was 39.02% (16/41). Conclusion: The polymorphism of intron 13 (CA)n of FⅧ gene can be as the genetic marker for genetic diagnosis of haemophilia A.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
2001年第5期337-338,共2页
Journal of China Medical University
