Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors examined, using nephrological, genealogical and molecular genetic methods, 85 subjects from 19 families with autosomal dominant heredity of polycystic kidney disease. Using the probe 3HVR alpha-globin and restriction endonuclease Pvu II, the authors assessed 95% informative families in the given group and the reliability of the diagnosis was also 95%. The authors tested the homogeneity of the disease in the Czech population and the applicability of the mentioned probe and endonuclease for molecular genetic testing of our population.
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PMID:[Clinical and molecular problems in polycystic kidneys]. 197 Jul 60

Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.
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PMID:Clinical and molecular problems of polycystic kidney disease. 198 85

In order to investigate the interzeta-globin gene hypervariable regions (IZHVR) in Chinese, DNA samples from 114 unrelated normal individuals were analyzed using the restriction endonuclease BglII and hybridized with a 32P-labeled zeta-globin probe. Four polymorphic fragments containing IZHVR with different frequencies were found: 11.3 kb, 0.24; 10.8 kb, 0.50; 10.4 kb, 0.05, and 10.0 kb, 0.21. Using these polymorphic fragments as linkage markers, we were able to trace the affected siblings in a three-generation Chinese family with a history of adult polycystic kidney disease.
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PMID:Interzeta-globin gene hypervariable regions in Chinese: application to genetic diagnosis of adult polycystic kidney disease. 257 94