title: Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
abstract: DNA from 14 unrelated New Zealand familial hypercholesterolaemia (FH) heterozygotes, originating from the United Kingdom, was screened for mutations in exon 4 of the low density lipoprotein receptor (LDLR) gene. One patient was heterozygous for mutation D206E, which was initially identified in South Africa. The chromosomal background of this mutant allele was compatible with that described previously in Afrikaner and English patients, suggesting that this mutation originated in the United Kingdom. The 2 bp deletion in codon 206 and mutations D154N and D200G, previously reported in English FH patients, were not detected in this sample. In one of the patients, however, a new deletion of 7 bp was identified after nucleotide 581 (or 582) in exon 4 of the LDLR gene.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: L
authors.initials: L
authors.lastname: Theart
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: E
authors.initials: E
authors.lastname: Langenhoven
authors.forename: O
authors.initials: O
authors.lastname: Loubser
authors.forename: A V
authors.initials: AV
authors.lastname: Peeters
authors.forename: C J
authors.initials: CJ
authors.lastname: Lintott
authors.forename: R S
authors.initials: RS
authors.lastname: Scott
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D015342:DNA Probes; D005091:Exons; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009520:New Zealand; D009692:Nucleic Acid Heteroduplexes; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D015342:DNA Probes; D009692:Nucleic Acid Heteroduplexes; D011973:Receptors, LDL