A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis

Wallace, DF, Partridge, J, Robertson, A, Simpson, VMA, Worwood, M, Bomford, AB, Volz, A, Ziegler, A, Dooley, JS and Walker, AP (1998) A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis. European Journal of Human Genetics, 6 5: 523-526. doi:10.1038/sj.ejhg.5200216


Author Wallace, DF
Partridge, J
Robertson, A
Simpson, VMA
Worwood, M
Bomford, AB
Volz, A
Ziegler, A
Dooley, JS
Walker, AP
Title A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
Publication date 1998-09-01
Year available 1998
Sub-type Article (original research)
DOI 10.1038/sj.ejhg.5200216
Open Access Status
Volume 6
Issue 5
Start page 523
End page 526
Total pages 4
Place of publication LONDON
Publisher NATURE PUBLISHING GROUP
Language eng
Abstract We describe a 4 Mb reference map of the haemochromatosis gene region in leukocyte DNA from seven controls and four atypical haemochromatosis patients. Three patients had normal coding sequence for HFE, the candidate gene for genetic haemochromatosis (GH). The fourth patient had classical GH but was heterozygous for Cys282Tyr with otherwise normal coding sequence. The genomic DNA was mapped by pulsed-field gel electrophoresis (PFGE) using five rare-cutting enzymes. Seventeen probes including HFE were positioned on the map. Despite proximity to the highly polymorphic major histocompatibility complex (MHC), no polymorphism was observed in the control group with these telomeric probes. Furthermore, major rearrangement of the HFE region was excluded as a mutation contributing to iron overload in these atypical patients, Maps of cloned DNA are linked through genes and other probes to this reference map of the HFE region in uncloned genomic DNA.
Keyword haemochromatosis
Hfe
6p22
physical map
pulsed-field gel electrophoresis
Hereditary Hemochromatosis
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
 
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