GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:2349940

From GONUTS
Jump to: navigation, search
Citation

Kishi, K, Yasuda, T, Ikehara, Y, Sawazaki, K, Sato, W and Iida, R (1990) Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas. Am. J. Hum. Genet. 47:121-6

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.

Links

PubMed PMC1683738

Keywords

Deoxyribonuclease I/blood; Deoxyribonuclease I/genetics; Deoxyribonuclease I/urine; Electrophoresis, Polyacrylamide Gel; Humans; Isoenzymes/blood; Isoenzymes/genetics; Isoenzymes/urine; Kidney/enzymology; Liver/enzymology; Organ Specificity; Pancreas/enzymology; Phenotype; Polymorphism, Genetic

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:DNAS1

located_in

GO:0005576: extracellular region

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:DNAS1

part_of

GO:0005576: extracellular region

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

Notes

See also

References

See Help:References for how to manage references in GONUTS.