Document Detail

Mapping recombinant events with molecular markers in hemochromatosis pedigrees.
MedLine Citation:
PMID:  7913677     Owner:  NLM     Status:  MEDLINE    
The gene responsible for hereditary hemochromatosis (HH) is tightly linked to the class I region of the human leukocyte antigen (HLA) complex. Initial studies designed to map the disease locus have relied on serological markers for the class I antigens. Molecular markers from this region can now be used in combination with HLA serotyping for mapping studies. We previously reported two pedigrees in which serological data indicated recombinant events within the class I region. These data suggested a location for the HH locus between HLA-A and HLA-B. Molecular mapping studies have allowed us to demonstrate that an apparent recombination in one pedigree did not occur. This approach has also produced a more precise centromeric boundary for the region containing the disease locus, telomeric of HLA-C. These results emphasize the importance of including both serological and molecular markers in pedigree studies aimed at fine mapping the HH locus.
E S Radisky; R S Ajioka; C Q Edwards; L M Griffen; J P Kushner
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Cytogenetics and cell genetics     Volume:  67     ISSN:  0301-0171     ISO Abbreviation:  Cytogenet. Cell Genet.     Publication Date:  1994  
Date Detail:
Created Date:  1994-08-19     Completed Date:  1994-08-19     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0367735     Medline TA:  Cytogenet Cell Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  126-8     Citation Subset:  IM    
Department of Medicine, University of Utah School of Medicine, Salt Lake City 84132.
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MeSH Terms
Cells, Cultured
Chromosome Mapping
Genetic Markers*
HLA Antigens / genetics
Hemochromatosis / genetics*
Linkage (Genetics)
Polymorphism, Restriction Fragment Length
Recombination, Genetic*
Grant Support
Reg. No./Substance:
0/Genetic Markers; 0/HLA Antigens

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

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