AMPLIFICATION REFRACTORY MUTATION SYSTEM FOR PRENATAL DIAGNOSIS AND CARRIER ASSESSMENT IN CYSTIC FIBROSIS

doi:10.1016/S0140-6736(89)92931-0

The Lancet

Volume 334, Issues 8678–8679, 30 December 1989, Pages 1481-1483

https://doi.org/10.1016/S0140-6736(89)92931-0 Get rights and content

Abstract

The amplification refractory mutation system (ARMS) has been applied to prenatal diagnosis and carrier detection of cystic fibrosis. The nucleotide sequence of both alleles of the PstI restriction fragment length polymorphism at the KM19 locus, which displays linkage disequilibrium with cystic fibrosis, has been determined. ARMS enables direct analysis of alleles of this polymorphism in DNA isolated from chorionic villus biopsy or white blood cells.

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Sequence-based marker development in wheat: Advances and applications to breeding
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In the past two decades, the wheat community has made remarkable progress in developing molecular resources for breeding. A wide variety of molecular tools has been established to accelerate genetic and physical mapping for facilitating the efficient identification of molecular markers linked to genes and QTL of agronomic interest. Already, wheat breeders are benefiting from a wide range of techniques to follow the introgression of the most favorable alleles in elite material and develop improved varieties. Breeders soon will be able to take advantage of new technological developments based on Next Generation Sequencing. In this paper, we review the molecular toolbox available to wheat scientists and breeders for performing fundamental genomic studies and breeding. Special emphasis is given on the production and detection of single nucleotide polymorphisms (SNPs) that should enable a step change in saturating the wheat genome for more efficient genetic studies and for the development of new selection methods. The perspectives offered by the access to an ordered full genome sequence for further marker development and enhanced precision breeding is also discussed. Finally, we discuss the advantages and limitations of marker-assisted selection for supporting wheat improvement.
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An allele-specific primer, common opposite primer, and common dual-labeled probe format was selected for generation of SNP-detection primer/probe sets. PCR primers were designed according to amplification refractory mutation system (ARMS) technology, which was originally developed by Newton and coauthors9,10 using Primer3 design (v. 0.4.0) software (http://www.bioinformatics.nl/cgi-bin/primer3plus/primer3plus.cgi), Operon biotechnologies oligo calculation tool (https://www.operon.com/oligos/toolkit.php) and RealTimeDesign software (http://www.biosearchtech.com/products/probe_design.asp). The thermodynamic properties of amplification regions were checked with the DINAMelt software (http://www.bioinfo.rpi.edu/applications/hybrid/twostate-fold.php).
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Prepared samples were stored at −20°C for later use in PCRs. We selected the real-time amplification refractory mutation system (ARMS-qPCR) as the genotyping method.16 Allele-specific forward primers (ForwA and ForwG) were designed using published guidelines,17 while reverse (Rev) and sequencing (ForwS) primers were designed using PRIMER3Plus software18 (Table 1).
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Genomic DNA was isolated from peripheral leukocytes of 200 surgical patients of the Center-West region of Brazil. Our genotyping protocol was developed based on the real-time amplification refractory mutation system and validated by comparison with cycle sequencing. Functional consequences of the A118G polymorphism were studied by comparing tobacco smoking prevalence and exposure between genotype groups.
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AMPLIFICATION REFRACTORY MUTATION SYSTEM FOR PRENATAL DIAGNOSIS AND CARRIER ASSESSMENT IN CYSTIC FIBROSIS

Abstract

J Mol Biol

Genomics

Lancet

Lancet

Analysis of any point mutation in DNA. The amplification refractory mutation system

Nucl Acids Res

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

Proc Natl Acad Sci USA