Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.
Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.
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人血清脱氧核糖核酸酶 I (DNase I) 多态性：血清、尿液、肾脏、肝脏和胰腺同工酶之间的模式相似性。
DOI：
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发表时间：
1990
影响因子：
9.8
通讯作者：
R. Iida
中科院分区：
文献类型：
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作者：
K. Kishi;T. Yasuda;Y. Ikehara;K. Sawazaki;W. Sato;R. Iida
我们设计了一种高灵敏度和高分辨率的酶谱方法，用于研究脱氧核糖核酸酶I的分子异质性和遗传多态性。聚丙烯酰胺凝胶等电聚焦电泳技术与新近发展的酶谱法相结合，发现了人血清DNA酶I的遗传多态性。家族研究表明，三种常见的表型--DNASE 1 1、DNASE 1 1 1-2和DNASE 1 2--以及其他五种相对罕见的表型--DNASE 1 1 1-3、DNASE 1 2-3、DNASE 1 2-4和DNASE 1 3-4--代表四种常染色体共显性等位基因--DNASE 1 *1、DNASE 1 *2、DNASE 1 *3和DNASE 1 *4的纯合性或杂合性。在日本人群中计算的DNASE 1 *1、DNASE 1 *2、DNASE 1 *3和DNASE 1 *4的频率分别为0.5517、0.4358、0.0104和0.0021。此外，发现尿和肾、肝和胰腺的提取物以及血清可用于DNA酶I表型分型。
We have devised a zymogram method with high sensitivity and resolution for investigating molecular heterogeneity and genetic polymorphism of deoxyribonuclease I. A combination technique of polyacrylamide-gel isoelectric-focusing electrophoresis and the newly developed zymogram method have led to the discovery of genetic polymorphism of human serum DNase I. Family studies showed that the three common phenotypes--DNASE1 1, DNASE1 1-2, and DNASE1 2--and the other five relatively rare phenotypes--DNASE1 1-3, DNASE1 2-3, DNASE1 2-4, and DNASE1 3-4--represent homozygosity or heterozygosity for four autosomal codominant alleles, DNASE1 *1, DNASE1 *2, DNASE1 *3, and DNASE1 *4. The frequencies of DNASE1 *1, DNASE1 *2, DNASE1 *3, and DNASE1 *4 calculated in a Japanese population were .5517, .4358, .0104, and .0021, respectively. Moreover, it was found that urine and extracts of kidney, liver, and pancreas, as well as serum, can be used for DNase I phenotyping.