Linked Life Data

9401103

Source:http://linkedlifedata.com/resource/pubmed/id/9401103

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-1-14
pubmed:abstractText
A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
150-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
A recombination event close to HFE gene in hereditary hemochromatosis.
pubmed:affiliation
Dipartimento di Scienze Biomediche e Oncologia Umana, Ospedale San Luigi Gonzaga, Università di Torino, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't