A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.
Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, and 6 from the LDLR gene, coding for the largest part of the receptor ligand-binding domain.
Mandelshtam
M J
MJ
Department of Molecular Genetics, Institute for Experimental Medicine, St. Petersburg, Russian Federation.
Lipovetskyi
B M
BM
Schwartzman
A L
AL
Gaitskhoki
V S
VS
D000328:Adult; D015139:Blotting, Southern; D002648:Child; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011973:Receptors, LDL / Q000235:genetics*; D015183:Restriction Mapping; D012426:Russia / Q000453:epidemiology; D017384:Sequence Deletion
D011973:Receptors, LDL