title: High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.
abstract: We analysed the LDL receptor (LDLr) gene in 18 Brazilian patients with familial hypercholesterolaemia (FH) from 10 unrelated families. The combination of a direct search for the Lebanese allele of the LDLr gene by a PCR method and Southern blotting using cDNA probes allowed the identification of the gene defect in six out of 10 families. The Lebanese allele was found in five families and in one family the disease was caused by a 4 kb deletion in the 3' half of the LDLr gene. The results indicate an important contribution of the Lebanese allele to the prevalence of FH in the Brazilian population and suggest that it may also be the most common cause of FH in other mixed populations outside the Middle East.
authors.affiliation: Department of Clinical Medicine, School of Medicine, University of São Paulo, Ribeirão Preto, Brazil.
authors.forename: M S
authors.initials: MS
authors.lastname: Figueiredo
authors.forename: J E
authors.initials: JE
authors.lastname: Dos Santos
authors.forename: F L
authors.initials: FL
authors.lastname: Alberto
authors.forename: M A
authors.initials: MA
authors.lastname: Zago
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D001938:Brazil; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007861:Lebanon / Q000208:ethnology; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA