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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1992-4-2
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pubmed:abstractText |
Eleven Acadian families with Friedreich ataxia (FA) who were from southwest Louisiana were studied with a series of polymorphic markers spanning 310 kb in the D9S5-D9S15 region previously shown to be tightly linked to the disease locus. In particular, three very informative microsatellites were tested. Evidence for a strong founder effect was found, since a specific extended haplotype spanning 230 kb from 26P (D9S5) to MCT112 (D9S15) was present on 70% of independent FA chromosomes and only once (6%) on the normal ones. There was no evident correlation between haplotypes and clinical expression. The typing of an additional microsatellite (GS4) located 80 kb from MCT112 created a divergence of the main FA-linked haplotype, generating four minor and one major haplotype. A similar split was observed with GS4 in a patient homozygous for a rare 26P-to-MCT112 haplotype. These results suggest that GS4 is flanking marker for the disease locus, although other interpretations are possible.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-1087179,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-1867193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-1916823,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-1968638,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-1974878,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2004770,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2190192,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2220803,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2294745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2326257,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2358306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2377456,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2378348,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2563350,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2563632,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2764036,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2884068,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2888082,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2899844,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2902788,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-2929596,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-3347271,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-6391646,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1347194-7272714
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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 |
Mar
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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 |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
559-66
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1347194-Adolescent,
pubmed-meshheading:1347194-Child,
pubmed-meshheading:1347194-Consanguinity,
pubmed-meshheading:1347194-DNA, Satellite,
pubmed-meshheading:1347194-Female,
pubmed-meshheading:1347194-Friedreich Ataxia,
pubmed-meshheading:1347194-Genetic Linkage,
pubmed-meshheading:1347194-Genetic Markers,
pubmed-meshheading:1347194-Haplotypes,
pubmed-meshheading:1347194-Humans,
pubmed-meshheading:1347194-Louisiana,
pubmed-meshheading:1347194-Male,
pubmed-meshheading:1347194-Pedigree,
pubmed-meshheading:1347194-Polymorphism, Genetic,
pubmed-meshheading:1347194-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1347194-Quebec,
pubmed-meshheading:1347194-Recombination, Genetic
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pubmed:year |
1992
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pubmed:articleTitle |
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
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pubmed:affiliation |
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Biologie Moléculaire Génie Génétique de l'INSERM, Strasbourg, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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