Document Detail


Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
MedLine Citation:
PMID:  1979060     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen have been mapped to the long arm of human chromosome 2. Linkage analysis in CEPH families indicated that these two genes are close to each other, with no recombination in 37 informative meioses. In the present study, DNA probes from the 3' ends of each gene have been physically mapped by pulsed-field gel electrophoresis. The probes recognized 11 macrorestriction fragments in common, ranging from greater than 1000 kb MluI and NotI fragments to a 35-kb SfiI fragment. Therefore, the COL3A1 and COL5A2 genes appear to exist as a gene cluster on chromosome 2. This is the third example of a collagen gene cluster. Other examples include the COL4A1-COL4A2 genes on chromosome 13q and the COL6A1-COL6A2 genes on chromosome 21q. The physical proximity of these genes may indicate common evolution and/or regulation.
Authors:
G R Cutting; M J McGinniss; L M Kasch; P Tsipouras; S E Antonarakis
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  8     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1990 Oct 
Date Detail:
Created Date:  1991-01-16     Completed Date:  1991-01-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  407-10     Citation Subset:  IM    
Affiliation:
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping / methods*
Chromosomes, Human, Pair 2*
Collagen / genetics*
DNA Probes
Electrophoresis, Polyacrylamide Gel
Genetic Markers*
Humans
Lod Score
Polymorphism, Restriction Fragment Length*
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers; 9007-34-5/Collagen

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


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