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Title: A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the LDL receptor gene. Here the authors characterize and LDL receptor mutation that is associated with a distinct haplotype and causes FH in the Druze, a small Middle Eastern Islamic sect with a high degree of inbreeding. The mutation was found in FH families from two distinct Druze villages from the Golan Heights (northern Israel). It was not found either in another Druze FH family residing in a different geographical area nor in eight Arab and four Jewish FH heterozygote index cases whose hypercholesterolemia cosegregates with an identical LDL receptor gene haplotype. The mutation, a single-base substitution, results in a termination codon in exon 4 of the LDL receptor gene that encodes for the fourth repeat of the binding domain of the mature receptor. It can be diagnosed by allele-specific oligonucleotide hybridization of PCR-amplified DNA from FH patients.

Authors:
; ; ;  [1];  [2]; ;  [3]
  1. (Hadassah University Hospital, Jerusalem (Israel))
  2. (Rambam Medical Center and Faculty of Medicine, Haifa (Israel))
  3. (University of Cape Town Medical School, (South Africa))
Publication Date:
OSTI Identifier:
7014302
Alternate Identifier(s):
OSTI ID: 7014302
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; (United States); Journal Volume: 50:2
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; CHOLESTEROL; METABOLISM; GENE MUTATIONS; DNA HYBRIDIZATION; HEREDITARY DISEASES; ETIOLOGY; CODONS; ENDONUCLEASES; GENE AMPLIFICATION; HUMAN POPULATIONS; ISRAEL; METABOLIC DISEASES; OLIGONUCLEOTIDES; RECEPTORS; ASIA; DEVELOPING COUNTRIES; DISEASES; DNA-ASE; ENZYMES; ESTERASES; HYBRIDIZATION; HYDROLASES; HYDROXY COMPOUNDS; MEMBRANE PROTEINS; MIDDLE EAST; MUTATIONS; NUCLEIC ACIDS; ORGANIC COMPOUNDS; PHOSPHODIESTERASES; POPULATIONS; PROTEINS; STEROIDS; STEROLS 550200* -- Biochemistry

Citation Formats

Landsberger, D., Meiner, V., Reshef, A., Leitersdorf, E., Levy, Yishai, Westhytzen, D.R. van der, and Coetzee, G.A.. A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. United States: N. p., 1992. Web.
Landsberger, D., Meiner, V., Reshef, A., Leitersdorf, E., Levy, Yishai, Westhytzen, D.R. van der, & Coetzee, G.A.. A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. United States.
Landsberger, D., Meiner, V., Reshef, A., Leitersdorf, E., Levy, Yishai, Westhytzen, D.R. van der, and Coetzee, G.A.. Sat . "A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect". United States.
@article{osti_7014302,
title = {A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect},
author = {Landsberger, D. and Meiner, V. and Reshef, A. and Leitersdorf, E. and Levy, Yishai and Westhytzen, D.R. van der and Coetzee, G.A.},
abstractNote = {Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the LDL receptor gene. Here the authors characterize and LDL receptor mutation that is associated with a distinct haplotype and causes FH in the Druze, a small Middle Eastern Islamic sect with a high degree of inbreeding. The mutation was found in FH families from two distinct Druze villages from the Golan Heights (northern Israel). It was not found either in another Druze FH family residing in a different geographical area nor in eight Arab and four Jewish FH heterozygote index cases whose hypercholesterolemia cosegregates with an identical LDL receptor gene haplotype. The mutation, a single-base substitution, results in a termination codon in exon 4 of the LDL receptor gene that encodes for the fourth repeat of the binding domain of the mature receptor. It can be diagnosed by allele-specific oligonucleotide hybridization of PCR-amplified DNA from FH patients.},
doi = {},
journal = {American Journal of Human Genetics; (United States)},
number = ,
volume = 50:2,
place = {United States},
year = {Sat Feb 01 00:00:00 EST 1992},
month = {Sat Feb 01 00:00:00 EST 1992}
}