Screening for mutations in exon 4: Of the LDL receptor gene: Identification of a new deletion mutation
Date
1995
Authors
Theart L.
Kotze M.J.
Langenhoven E.
Loubser O.
Peeters A.V.
Lintott C.J.
Scott R.S.
Journal Title
Journal ISSN
Volume Title
Publisher
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 2bp 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.
Description
Keywords
low density lipoprotein receptor, adult, aged, article, clinical article, codon, deletion mutant, exon, familial hypercholesterolemia, female, genetic screening, heterozygote, human, human cell, male, new zealand, priority journal, receptor gene, south africa, united kingdom, Adult, Aged, Amino Acid Sequence, Base Sequence, DNA Probes, Exons, Female, Genes, Dominant, Genotype, Human, Hypercholesterolemia, Familial, Male, Middle Age, Molecular Sequence Data, Mutation, New Zealand, Nucleic Acid Heteroduplexes, Receptors, LDL, Sequence Deletion, Support, Non-U.S. Gov't
Citation
Journal of Medical Genetics
32
5
32
5