Deoxyribonuclease 1
Das DNASE1-Gen kodiert eine Endonuklease, die in den Zymogen-Granula. Genetische Varianten sind für den systemischen Lupus erythematodes verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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: 14. August 2020