Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Deoxyribonuclease-1

The DNASE1-Gene encodes an endonuclease that cleaves DNA and it is stored in zymogen granules. Genetic variants are associated with systemic lupus erythematodes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to systemic lupus erythematosus
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Susceptibility to lupus nephritis
FCGR2A
Systemic lupus erythematosus susceptibility to 9
CR2
TREX1

References:

1.

Yasuda T et al. (1990) Human genetically polymorphic deoxyribonuclease: purification, characterization, and multiplicity of urine deoxyribonuclease I.

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2.

Kishi K et al. (1990) Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.

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3.

Kishi K et al. (1989) Genetic polymorphism of human urine deoxyribonuclease I.

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4.

Yasuda T et al. (1995) Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.

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5.

Yasuda T et al. (1995) Chromosomal assignment of the human deoxyribonuclease I gene, DNASE 1 (DNL1), to band 16p13.3 using the polymerase chain reaction.

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6.

Napirei M et al. (2000) Features of systemic lupus erythematosus in Dnase1-deficient mice.

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7.

Yasutomo K et al. (2001) Mutation of DNASE1 in people with systemic lupus erythematosus.

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8.

Shin HD et al. (2004) Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.

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Update: Aug. 14, 2020
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