| Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease. | |
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MedLine Citation:
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PMID: 2891602 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two single-copy DNA sequences, pG24E6.8 (D13S21) detecting a low-frequency MspI RFLP and pG14E1.9 (D13S22) detecting a high-frequency Dra I RFLP, have been isolated and cloned from a human chromosome 13-specific phage library and localized at 13q14. Their subband localization was described using a panel of cell lines from patients with different chromosome 13 deletions. A quantitative analysis of hybridization signals was carried out, taking for reference a single-copy DNA sequence from another chromosome. D13S21 and D13S22 were both assigned to q14.1-14.2, which also harbors the genes responsible for retinoblastoma and Wilson disease. The Dra I polymorphism detected by pG14E1.9 is a very suitable one for linkage studies in families with either disease. |
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Authors:
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H Scheffer; I P Kema; I Kondo; A Y van der Veen; T Ikeuchi; C H Buys |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 77 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1987 Dec |
Date Detail:
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Created Date: 1988-02-04 Completed Date: 1988-02-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 335-7 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, State University of Groningen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cell Line Chromosome Banding Chromosome Mapping* Chromosomes, Human, Pair 13* DNA / genetics Hepatolenticular Degeneration / diagnosis, genetics* Humans Karyotyping Nucleic Acid Hybridization Polymorphism, Genetic* Polymorphism, Restriction Fragment Length* Retinoblastoma / diagnosis, genetics* |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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