Allele-specific amplification of genomic DNA for detection of deletion mutations: Identification of a French-Canadian tay-sachs mutation

1991 ◽  
Vol 14 (5) ◽  
pp. 707-714 ◽  
Author(s):  
F. Kaplan ◽  
B. Boulay ◽  
J. Bayleran ◽  
P. Hechtman
Keyword(s):  
Genomic Dna ◽  
French Canadian ◽  
Deletion Mutations ◽  
Allele Specific ◽  
Specific Amplification

scholarly journals Homogeneous Assays for Single-Nucleotide Polymorphism Typing Using AlphaScreen

2001 ◽  
Vol 11 (4) ◽  
pp. 600-608
Author(s):  
Lucille Beaudet ◽  
Julie Bédard ◽  
Billy Breton ◽  
Roberto J. Mercuri ◽  
Marcia L. Budarf
Keyword(s):  
Single Nucleotide Polymorphism ◽  
High Throughput ◽  
Genomic Dna ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Specific Hybridization ◽  
Donor And Acceptor ◽  
Close Proximity ◽  
Allele Specific ◽  
Specific Amplification

AlphaScreen technology allows the development of high-throughput homogeneous proximity assays. In these assays, signal is generated when 680 nm laser light irradiates a donor bead in close proximity to an acceptor bead. For the detection of nucleic acids, donor and acceptor beads are brought into proximity by two bridging probes that hybridize simultaneously to a common target and to the generic oligonucleotides attached covalently to the beads. This method allows the detection of as little as 10 amole of a single-stranded DNA target. The combination of AlphaScreen with allele-specific amplification (ASA) and allele-specific hybridization (ASH) has allowed the development of two homogenous single-nucleotide polymorphism (SNP) genotyping platforms. Both types of assay are very robust, routinely giving accurate genotyping results with < 2 ng of genomic DNA per genotype. An AlphaScreen validation study was performed for 12 SNPs by using ASA assays and seven SNPs by using ASH assays. More than 580 samples were genotyped with accuracy >99%. The two assays are remarkably simple, requiring no post-PCR manipulations. Genotyping has been performed successfully in 96- and 384-well formats with volumes as small as 2 μL, allowing a considerable reduction in the amount of reagents and genomic DNA necessary for genotyping. These results show that the AlphaScreen technology can be successfully adapted to high-throughput genotyping.

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR

2007 ◽  
Vol 71 (6) ◽  
pp. 569-575 ◽  
Author(s):  
S Giroux ◽  
A Dubé-Linteau ◽  
G Cardinal ◽  
Y Labelle ◽  
N Laflamme ◽  
...  
Keyword(s):  
French Canadian ◽  
Specific Pcr ◽  
Canadian Population ◽  
Allele Specific ◽  
Allele Specific Pcr

scholarly journals Detection of rare point mutation via allele-specific amplification in emulsion PCR

BMB Reports ◽  
2013 ◽  
Vol 46 (5) ◽  
pp. 270-275 ◽  
Author(s):  
Changming Cheng ◽  
Yin Zhou ◽  
Chao Yang ◽  
Juan Chen ◽  
Jie Wang ◽  
...  
Keyword(s):  
Point Mutation ◽  
Emulsion Pcr ◽  
Allele Specific ◽  
Specific Amplification
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