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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2000-6-28
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pubmed:abstractText |
Familial hypobetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characterized by less than fifth percentile age- and sex-specific levels of apolipoprotein beta (apobeta) and low-density lipoprotein-cholesterol. In a minority of cases, FHBL is due to truncation-producing mutations in the apobeta gene on chromosome 2p23-24. Previously, we reported on a four-generation FHBL kindred in which we had ruled out linkage of the trait to the apobeta gene. To locate other loci containing genes for low apobeta levels in the kindred, a genomewide search was conducted. Regions on 3p21.1-22 with two-point LOD scores >1.5 were identified. Additional markers were typed in the region of these signals. Two-point LOD scores in the region of D3S2407 increased to 3.35 at O = 0. GENEHUNTER confirmed this finding with an nonparametric multipoint LOD score of 7.5 (P=.0004). Additional model-free analyses were conducted with the square root of the apobeta level as the phenotype. Results from the Loki and SOLAR programs further confirmed linkage of FHBL to 3p21.1-22. Weaker linkage to a region near D19S916 was also indicated by Loki and SOLAR. Thus, a heretofore unidentified genetic susceptibility locus for FHBL may reside on chromosome 3.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-10053019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-10224165,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-1619387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-1995762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-2760205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-3560398,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8527219,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8605667,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8651310,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8651312,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-8831609,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-9508071,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-9545414,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-9812913,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10762553-9860439
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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 |
May
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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 |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1699-704
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10762553-Adolescent,
pubmed-meshheading:10762553-Aged,
pubmed-meshheading:10762553-Apolipoproteins B,
pubmed-meshheading:10762553-Chromosome Mapping,
pubmed-meshheading:10762553-Chromosomes, Human, Pair 3,
pubmed-meshheading:10762553-Female,
pubmed-meshheading:10762553-Genetic Markers,
pubmed-meshheading:10762553-Genetic Predisposition to Disease,
pubmed-meshheading:10762553-Haplotypes,
pubmed-meshheading:10762553-Humans,
pubmed-meshheading:10762553-Hypobetalipoproteinemias,
pubmed-meshheading:10762553-Lod Score,
pubmed-meshheading:10762553-Male,
pubmed-meshheading:10762553-Middle Aged,
pubmed-meshheading:10762553-Models, Genetic,
pubmed-meshheading:10762553-Pedigree,
pubmed-meshheading:10762553-Quantitative Trait, Heritable,
pubmed-meshheading:10762553-Software
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pubmed:year |
2000
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pubmed:articleTitle |
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
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pubmed:affiliation |
Washington University School of Medicine, Washington University, St. Louis, MO 63110, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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