河南省健康人群中壳三糖酶基因型分布  

Distribution of variant genotypes of chitotriosidase in healthy populations of Henan Province

作　　者：王军[1] 冯建飞[1] 朱绍先[1] 王宏[1] 栾斌[1] 张利[1] 李玉香[1] 

机构地区：[1]郑州大学第三附属医院儿科,郑州450052

出　　处：《郑州大学学报（医学版）》2003年第6期934-936,共3页Journal of Zhengzhou University(Medical Sciences)

摘　　要：目的 :研究河南省健康人群中壳三糖酶不同基因型的分布情况。方法 :随机抽取 1 0 7例健康献血员为研究对象 ,采取多聚酶链反应技术 (PCR)扩增其基因组DNA ,进行壳三糖酶基因型分析。结果 :1 0 7例健康人中 ,HH纯合子突变基因型 2 9例 (2 7% ) ,TT正常基因型 5 2例 (4 9% ) ,HT杂合子携带者基因型 2 6例 (2 4 % )。H、T等位基因频率分别为 0 .393、0 .6 0 7。结论 :河南省健康人群的壳三糖酶基因型分布不符合Hardy -Weinberg平衡定律。Aim: To investigate the distribution of chitotriosidase genotypes in healthy populations of Henan Province. Methods: One hundred and seven healthy donors were selected at random. PCR amplification of genomic DNA was used.Results: Within 107 donors, 29 donors (27%) with HH homozygous genotype, 52 (49%) with TT homozygous genotype, and 26 (24%) with HT heterozygous genotype. The frequencies of H, T alleles were 0.393, 0.607, respectively. Conclusion: The distribution of variant genotypes of chitotriosidase in healthy populations of Henan Province is not accorded with the Hardy-Weinberg Equilibrium Law. The results provide basis for further study of the association of chitotriosidase genotypes and diseases.

关 键 词：壳三糖酶 多聚酶链反应 等位基因 

分 类 号：Q347[生物学—遗传学] Q556