PMID: 7580929Jun 1, 1995Paper

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

PCR Methods and Applications
Maritha J KotzeE Langenhoven

Abstract

We have developed a rapid, nonradioactive screening test enabling the simultaneous analysis of three low-density lipoprotein receptor (LDLR) gene mutations (D154N, D206E, and V408M), which together account for familial hypercholesterolemia (FH) in approximately 90% of the South African Afrikaner population. The assay is designed so that FH patients, negative for these founder-related mutations (found in descendants of European settlers), subsequently can be screened for unknown mutations in the mutation-rich exon 4 of the LDLR gene. Our screening assay consists of two steps: (1) multiplex allele-specific PCR amplification of exons 4 and 9, and (2) simultaneous analysis of single- and double-strand conformational polymorphisms in exon 4 by vertical electrophoresis on low cross-linked polyacrylamide gels. The simplicity, specificity, and versatility of the multiplex assay makes it an ideal system for routine screening of FH mutations in large population samples.

Citations

Aug 1, 2000·Indian Journal of Clinical Biochemistry : IJCB·T F AshavaidK G Nair
Aug 5, 2008·Journal of Pediatric Surgery·Sam W MooreMonique G Zaahl
Jul 10, 2007·Journal of Pediatric Surgery·Sam W Moore, Monique G Zaahl
Feb 3, 2007·Journal of Pediatric Surgery·Samuel W MooreMonique G Zaahl
Sep 9, 2011·International Journal of Cancer. Journal International Du Cancer·Natalie J StricklandMonique G Zaahl
Mar 17, 1998·Molecular and Cellular Probes·R ThiartM J Kotze
Nov 21, 2007·Journal of Clinical Laboratory Analysis·Altaf A KondkarTester F Ashavaid
Jul 4, 2001·European Journal of Human Genetics : EJHG·M G JuliesL du Plessis
Jan 4, 2001·Journal of Clinical Laboratory Analysis·T F AshavaidK G Nair
Jul 13, 1999·Human Molecular Genetics·J N de VilliersM J Kotze
Nov 10, 1998·International Journal of Cancer. Journal International Du Cancer·W GamieldienP D van Helden
Apr 8, 2004·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Maritha J KotzeChristian Oberkanins
Aug 11, 1999·Molecular and Cellular Probes·A V PeetersM J Kotze

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