Literature DB >> 2574768

Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis.

C R Newton1, L E Heptinstall, C Summers, M Super, M Schwarz, R Anwar, A Graham, J C Smith, A F Markham.   

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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Year:  1989        PMID： 2574768     DOI： 10.1016/s0140-6736(89)92931-0

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  20 in total

1.  Genotyping by apyrase-mediated allele-specific extension.

Authors:  A Ahmadian; B Gharizadeh; D O'Meara; J Odeberg; J Lundeberg
Journal:  Nucleic Acids Res       Date:  2001-12-15       Impact factor: 16.971

Review 2.  Biochemical neonatal screening.

Authors:  B Modell
Journal:  BMJ       Date:  1990-06-30

3.  Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism.

Authors:  C R Newton; C Summers; L E Heptinstall; J R Lynch; R S Finniear; D Ogilvie; J C Smith; A F Markham
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

4.  beta-Adrenergic receptor polymorphisms and response to salmeterol.

Authors:  Michael E Wechsler; Erik Lehman; Stephen C Lazarus; Robert F Lemanske; Homer A Boushey; Aaron Deykin; John V Fahy; Christine A Sorkness; Vernon M Chinchilli; Timothy J Craig; Emily DiMango; Monica Kraft; Frank Leone; Richard J Martin; Stephen P Peters; Stanley J Szefler; Wenlei Liu; Elliot Israel
Journal:  Am J Respir Crit Care Med       Date:  2005-12-01       Impact factor: 21.405

5.  Single nucleotide polymorphism-based system improves the applicability of quantitative PCR for chimerism monitoring.

Authors:  Egle Gineikiene; Mindaugas Stoskus; Laimonas Griskevicius
Journal:  J Mol Diagn       Date:  2008-12-04       Impact factor: 5.568

Review 6.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

7.  A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Authors:  F F Chehab; J Johnson; E Louie; M Goossens; E Kawasaki; H Erlich
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

8.  Isolation of Ty1-copia retrotransposon in myrtle genome and development of S-SAP molecular marker.

Authors:  Pasqualina Woodrow; Giovanni Pontecorvo; Loredana F Ciarmiello
Journal:  Mol Biol Rep       Date:  2011-07-02       Impact factor: 2.316

9.  Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

Authors:  Hugo Pinheiro; Renata Bordeira-Carriço; Susana Seixas; Joana Carvalho; Janine Senz; Patrícia Oliveira; Patrícia Inácio; Leonor Gusmão; Jorge Rocha; David Huntsman; Raquel Seruca; Carla Oliveira
Journal:  Hum Mol Genet       Date:  2009-12-04       Impact factor: 6.150

10.  Multiplex Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) for diagnosis of natural infection with canine distemper virus.

Authors:  Songkhla Chulakasian; Min-Shiuh Lee; Chi-Young Wang; Shyan-Song Chiou; Kuan-Hsun Lin; Fong-Yuan Lin; Tien-Huan Hsu; Min-Liang Wong; Tien-Jye Chang; Wei-Li Hsu
Journal:  Virol J       Date:  2010-06-10       Impact factor: 4.099
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