Summary
A genetic polymorphism of human urine deoxyribonuclease I (DNase I) has been detected by the technique of polyacrylamide gel isoelectric focusing (IEF-PAGE) followed by immunoblotting with anti-DNase I antibody. Family studies showed that the three common phenotypes —DNASE1 1, 1–2, and 2 — and the other four rare phenotypes — DNASE1 1–3, 2–3, 2–4, and 3–4 — represent homozygosity or heterozygosity for four autosomal codominant alleles, DNASE1 * 1, * 2, * 3, and * 4. The frequencies of the DNASE1 * 1, DNASE1 * 2, DNASE1 * 3, and DNASE1 * 4 alleles in a studied Japanese population were 0.5453, 0.4396, 0.0117, and 0.0034, respectively.
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Kishi, K., Yasuda, T., Awazu, S. et al. Genetic polymorphism of human urine deoxyribonuclease I. Hum Genet 81, 295–297 (1989). https://doi.org/10.1007/BF00279009
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DOI: https://doi.org/10.1007/BF00279009