Title
2 novel frameshift mutations in the low-density-lipoprotein receptor gene generated by endogenous sequence-directed mechanisms 2 novel frameshift mutations in the low-density-lipoprotein receptor gene generated by endogenous sequence-directed mechanisms
Author
Publication type
article
Publication
Berlin ,
Subject
Human medicine
Source (journal)
Human genetics. - Berlin
Volume/pages
96() :4 , p. 401-406
ISSN
0340-6717
ISI
A1995RY22300004
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
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