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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1993-3-16
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pubmed:abstractText |
The absence of recombination between the mutation causing Friedreich ataxia and the two loci which originally assigned the disease locus to chromosome 9 has slowed attempts to isolate and characterize the genetic defect underlying this neurodegenerative disorder. A proximity of less than 1 cM to the linkage group has been proved by the generation of high maximal lod score (Z) to each of the two tightly linked markers D9S15 (Z = 96.69; recombination fraction [theta] = .01) and D9S5 (Z = 98.22; theta = .01). We report here recombination events which indicate that the FRDA locus is located centromeric to the D9S15/D9S5 linkage group, with the most probable order being cen-FRDA-D9S5-D9S15-qter. However, orientation of the markers with respect to the centromere, critical to the positional cloning strategy, remains to be resolved definitively.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1087179,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1347194,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1353054,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1916823,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1968638,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-1970404,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2004770,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2209091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2294745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2358306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2378348,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2563350,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2568612,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2570743,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2574535,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2764036,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2888082,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2892184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2899844,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-2929596,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-3243549,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-3328815,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-3859205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-6228949,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8434613-7272714
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
99-109
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:8434613-Adolescent,
pubmed-meshheading:8434613-Adult,
pubmed-meshheading:8434613-Base Sequence,
pubmed-meshheading:8434613-Chromosome Mapping,
pubmed-meshheading:8434613-Chromosomes, Human, Pair 9,
pubmed-meshheading:8434613-DNA, Single-Stranded,
pubmed-meshheading:8434613-Female,
pubmed-meshheading:8434613-Friedreich Ataxia,
pubmed-meshheading:8434613-Genetic Linkage,
pubmed-meshheading:8434613-Humans,
pubmed-meshheading:8434613-Linkage Disequilibrium,
pubmed-meshheading:8434613-Male,
pubmed-meshheading:8434613-Molecular Sequence Data,
pubmed-meshheading:8434613-Pedigree,
pubmed-meshheading:8434613-Recombination, Genetic
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pubmed:year |
1993
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pubmed:articleTitle |
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
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pubmed:affiliation |
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, England.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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