Publication
Title
2 novel frameshift mutations in the low-density-lipoprotein receptor gene generated by endogenous sequence-directed mechanisms
Author
Abstract
DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-bp insertion at codon 141 and a 23-bp deletion at codon 168, produce premature stop codons in the highly conserved ligand binding domain of the mature LDLR. Sequence data indicated that mispairing between short direct repeats during DNA replication is the most probable mechanism by which these mutations could have arisen. Our observations are consistent with an endogenous sequence-directed mechanism of mutagenesis.
Language
English
Source (journal)
Human genetics. - Berlin
Publication
Berlin : 1995
ISSN
0340-6717
Volume/pages
96:4, p. 401-406
ISI
A1995RY22300004
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 29.02.2012
Last edited 19.08.2017