Linked Life Data

7739620

Source:http://linkedlifedata.com/resource/pubmed/id/7739620

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1995-6-2
pubmed:abstractText
Facioscapulohumeral muscular dystrophy (FSHD) is located on chromosome 4q35, close to the telomere. FSHD patients carry deletions within a cluster of tandemly repeated DNA. Although expression of a functional FSHD gene will be altered in patients, the sequence itself may be unaffected by this deletion. Hence, the FSHD gene could lie outside of the deleted region. This study employs fluorescent in situ hybridization using chromosome 4-specific cosmid and YAC clones to rapidly saturate chromosome 4 with new markers. Some 250 cosmids and 26 YACs were regionally mapped, of which 5 YACs and 55 cosmids mapped to the distal portion of 4q. Only one of these clones (D4S1454) mapped telomerically to a translocation breakpoint specified by D4S187. Using two-color interphase mapping, the following marker order was obtained: Cen-D4S187-D4S1454-HSPCAL2-D4S163-D4S139-+ ++D4F35S1. Absence of additional markers mapping distal to D4F35S1 indicates that the linkage group containing the FSHD gene lies extremely close to the 4q telomere.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S14-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.
pubmed:affiliation
MGC-Department of Human Genetics, Leiden University, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't