Document Detail


Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.
MedLine Citation:
PMID:  2891602     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
H Scheffer; I P Kema; I Kondo; A Y van der Veen; T Ikeuchi; C H Buys
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  77     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1987 Dec 
Date Detail:
Created Date:  1988-02-04     Completed Date:  1988-02-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  335-7     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, State University of Groningen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
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:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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