人尿脱氧核糖核酸酶I的基因多态性
Genetic polymorphism of human urine deoxyribonuclease I.
作者信息
Kishi K, Yasuda T, Awazu S, Mizuta K
机构信息
Department of Legal Medicine, Fukui Medical School, Japan.
出版信息
Hum Genet. 1989 Feb;81(3):295-7. doi: 10.1007/BF00279009.
A genetic polymorphism of human urine deoxyribonuclease I (DNase I) has been detected by the technique of polyacrylamide gel isoelectric focusing (IEF-PAGE) followed by immunoblotting with anti-DNase I antibody. Family studies showed that the three common phenotypes - DNASE1 1, 1-2, and 2 - and the other four rare phenotypes - DNASE1 1-3, 2-3, 2-4, and 3-4 - represent homozygosity or heterozygosity for four autosomal codominant alleles, DNASE11, 2, 3, and 4. The frequencies of the DNASE11, DNASE12, DNASE13, and DNASE14 alleles in a studied Japanese population were 0.5453, 0.4396, 0.0117, and 0.0034, respectively.
通过聚丙烯酰胺凝胶等电聚焦技术（IEF-PAGE），然后用抗脱氧核糖核酸酶I抗体进行免疫印迹，检测到了人尿脱氧核糖核酸酶I（DNase I）的一种基因多态性。家系研究表明，三种常见表型——DNASE1 1、1-2和2——以及其他四种罕见表型——DNASE1 1-3、2-3、2-4和3-4——代表了四个常染色体共显性等位基因DNASE11、2、3和4的纯合性或杂合性。在所研究的日本人群中，DNASE11、DNASE12、DNASE13和DNASE14等位基因的频率分别为0.5453、0.4396、0.0117和0.0034。
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