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RESEARCH PRODUCT
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds
Maurizio AvernaGustav SchonfeldRosalind J. NeumanShenghui DuanKuang-yu LiuDaniela S. GerhardPin YueBo Yuansubject
Genetic MarkersAdultMaleMeiosiSettore MED/09 - Medicina InternaApolipoprotein BGenotypeGenetic LinkageQD415-436BiologyBiochemistryChromosomal crossoverHypobetalipoproteinemiasEndocrinologyQuantitative Trait HeritableGenetic linkageGenetic MarkerHaplotypeHumanslinkage analysisCrossing Over GeneticChildAgedAdult; Aged; Aged 80 and over; Child; Chromosome Mapping; Chromosomes Human Pair 3; Crossing Over Genetic; Female; Genetic Linkage; Genetic Markers; Genotype; Haplotypes; Humans; Hypobetalipoproteinemias; Male; Meiosis; Middle Aged; Pedigree; Quantitative Trait HeritableGeneticsAged 80 and overGenetic heterogeneityHaplotypeChromosomeChromosome MappingCell BiologyoligogenicMiddle AgedPedigreeMeiosisMarkov chain Monte CarloChromosome 3HaplotypesGenetic markerbiology.proteinvariance componentslipids (amino acids peptides and proteins)FemaleChromosomes Human Pair 3geneticHypobetalipoproteinemiaHumandescription
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB) concentrations in plasma and/or low levels of LDL-cholesterol (LDL-C) with a propensity to developing fatty liver. In a minority of cases, truncation-specifying mutations of the apoB gene (APOB) are etiologic, but the genetic basis of most cases is unknown. We previously reported linkage of FHBL to a 10 cM region on 3p21.1-22 in one kindred. The objectives of the current study were to identify other FHBL families with linkage to 3p and to narrow the FHBL susceptibility region on 3p. Six additional FHBL kindreds unlinked to the APOB region on chromosome 2 were genotyped with polymorphic markers spanning a region of approximately 13 cM on chromosome 3. Quantitative linkage analyses indicated that the FHBL in these families was linked to 3p21.1-22. Haplotype analysis identified several meiotic crossover events, allowing us to narrow the critical region from 10 cM to 2.0 cM, between markers D3S2407 and D3S1767. —Neuman, R. J., B. Yuan, D. S. Gerhard, K-Y. Liu, P. Yue, S. Duan, M. Averna, and G. Schonfeld. Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2002-03-01 |