|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
10
|
|
pubmed:dateCreated |
1990-6-21
|
|
pubmed:abstractText |
The chromosomal fragile-site mapping to Xq27.3 is associated with a frequent form of mental retardation and is prone to breakage after induced deoxyribonucleotide pool perturbation. The human hypoxanthine phosphoribosyltransferase (HPRT) and glucose-6-phosphate dehydrogenase (G6PD) genes flank the fragile X chromosome site and can be used to monitor integrity of the site in human-hamster somatic cell hybrids deficient in the rodent forms of these activities. After induction of the fragile X site, negative selection for HPRT and positive enrichment for G6PD resulted in 31 independent colonies of HPRT-,G6PD+ phenotype. Southern blot analysis demonstrated the loss of all tested markers proximal to the fragile X site with retention of all tested human Xq28 loci in a majority of the hybrids. In situ hybridization with a human-specific probe demonstrated the translocation of a small amount of human DNA to rodent chromosomes in these hybrids, suggesting chromosome breakage at the fragile X site and the subsequent translocation of Xq28. Southern blot hybridization of hybrid-cell DNA, resolved by pulsed-field gel electrophoresis, for human-specific repetitive sequences revealed abundant CpG-islands within Xq28, consistent with its known gene density. The electrophoretic banding patterns of human DNA among the hybrids were remarkably consistent, suggesting that fragile X site breakage is limited to a relatively small region in Xq27-28. These somatic cell hybrids, containing Xq27.3-qter as the sole human DNA, will aid the search for DNA associated with the fragile X site and will augment the high resolution genomic analysis of Xq28, including the identification of candidate genes for genetic-disease loci mapping to this region.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-1054832,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-1195397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-2328990,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-2438557,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-2771952,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3034481,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3177473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3344216,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3458254,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3603029,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-3953667,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-605387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-6329026,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-6589793,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-6712153,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2339126-9732752
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0027-8424
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
87
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
3856-60
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:2339126-Animals,
pubmed-meshheading:2339126-Blotting, Southern,
pubmed-meshheading:2339126-Cell Line,
pubmed-meshheading:2339126-Cell Survival,
pubmed-meshheading:2339126-Chromosome Banding,
pubmed-meshheading:2339126-Clone Cells,
pubmed-meshheading:2339126-DNA,
pubmed-meshheading:2339126-DNA Probes,
pubmed-meshheading:2339126-Fragile X Syndrome,
pubmed-meshheading:2339126-Glucosephosphate Dehydrogenase,
pubmed-meshheading:2339126-Humans,
pubmed-meshheading:2339126-Hybrid Cells,
pubmed-meshheading:2339126-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:2339126-Nucleic Acid Hybridization,
pubmed-meshheading:2339126-Sex Chromosome Aberrations,
pubmed-meshheading:2339126-X Chromosome
|
|
pubmed:year |
1990
|
|
pubmed:articleTitle |
Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
|
|
pubmed:affiliation |
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
