NDLI: Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.

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Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.

Content Provider	Semantic Scholar
Author	Hunt, Steven C. Hopkins, Paul N. Bulka, K. McDermott, Michele T. Thorne, Thomas Wardell, Bryan Bowen, Benjamin R. Ballinger, Dennis G. Skolnick, Mark H. Samuels, Mark E.
Copyright Year	2000
Abstract	Clinical familial hypercholesterolemia has been shown to result from mutations in 2 genes, the low density lipoprotein (LDL) receptor on chromosome 19 and apolipoprotein B on chromosome 2. However, we have recently described a Utah pedigree in which linkage to both genes was clearly excluded. A multipoint linkage analysis of 583 markers genotyped on 31 (18 affected) members of this pedigree was undertaken to localize a genetic region that may harbor a third gene that could result in clinical familial hypercholesterolemia. A multipoint log of the odds score of 6.8 was obtained for markers on 1p32. Haplotype carriers and affected status are completely concordant (18/18 persons). The phenotype is also expressed in young children (ages 4 and 9). Specific recombinant individuals in the pedigree restrict the region of linkage to an approximately 17 cM interval between polymorphic markers D1S2130 and D1S1596. This region appears to overlap the region found linked to severe hypercholesterolemia in French and Spanish families. The identification of the gene in this region may provide important pathophysiological insights into new mechanisms that may lead to highly elevated LDL cholesterol and other associated dyslipidemic phenotypes.
File Format	PDF HTM / HTML
DOI	10.1161/01.ATV.20.4.1089
PubMed reference number	10764678
Journal	Medline
Volume Number	20
Issue Number	4
Alternate Webpage(s)	http://atvb.ahajournals.org/content/atvbaha/20/4/1089.full.pdf?download=true
Alternate Webpage(s)	https://doi.org/10.1161/01.ATV.20.4.1089
Journal	Arteriosclerosis, thrombosis, and vascular biology
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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