DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia
Clinical GeneticsPublished 1 June 1991
N. Rüdiger, Else-Marie Heinsvig, Flemming Hansen, Ole Færgeman, Lars Bolund, N. Gregersen
Citations45
SJR quartileQ2
SJR score1.09
SNIP1.08
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TL;DR
DNA samples from 25 unrelated Danish patients with familial hypercholesterolemia were screened by Southern blot hybridization to detect gross alterations in the low density lipoprotein (LDL) receptor gene and three patients were found to have a deletion, which seems to support a notion of recombination hot spots which involve Alusequences.
Abstract
DNA samples from 25 unrelated Danish patients with familial hypercholesterolemia (FH) were screened by Southern blot hybridization to detect gross alterations in the low density lipoprotein (LDL) receptor gene. Three FH-patients were found to have a deletion. Two of these delete part of the cysteine rich domain, which comprises the ligand binding region of the LDL-receptor. The third deletion encompasses coding regions for the cytoplasmic part of the receptor. As two of these deletions could be equivalent to previously described LDL-receptor gene alterations, these data seem to support a notion of recombination hot spots which involve Alu-sequences.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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