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PMID: 2349940 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.

American journal of human genetics ·Vol. 47 ·No. 1 ·1990-07-00 ·Pages 121-6

Kishi K, Yasuda T, Ikehara Y, Sawazaki K, Sato W, Iida R

Abstract

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.

MeSH Terms
Deoxyribonuclease I/blood,genetics,urine Electrophoresis, Polyacrylamide Gel Humans Isoenzymes/blood,genetics,urine Kidney/enzymology Liver/enzymology Organ Specificity Pancreas/enzymology Phenotype Polymorphism, Genetic
Chemicals
Isoenzymes Deoxyribonuclease I
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kishi K
Department of Legal Medicine, Fukui Medical School, Japan.
Yasuda T
Ikehara Y
Sawazaki K
Sato W
Iida R
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-07-00
Pages
121-6
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683738
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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