A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect
- Hadassah University Hospital, Jerusalem (Israel)
- Rambam Medical Center and Faculty of Medicine, Haifa (Israel)
- University of Cape Town Medical School, (South Africa)
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.
- OSTI ID:
- 7014302
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 50:2; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
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