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Multiplex genomic DNA amplification for deletion detection

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TLDR
In this paper, a method for detecting multiple DNA sequences simultaneously was proposed, which involves amplification of multiple sequences simultaneously by annealing a plurality of paired oligonucleotide primers to single strand DNA.
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This article is published in Biotechnology Advances.The article was published on 1989-10-11. It has received 122 citations till now. The article focuses on the topics: Multiple displacement amplification & Oligonucleotide Primer.

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Intron sequence analysis method for detection of adjacent and remote locus alleles as haplotypes

TL;DR: In this paper, the authors proposed a method for detecting at least one allele of a genetic locus and can be used to provide direct determination of the haplotype by amplifying genomic DNA with a primer pair that spans an intron sequence and defines a DNA sequence in genetic linkage with an allele to be detected.
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Detectably labeled dual conformation oligonucleotide probes, assays and kits

TL;DR: In this paper, the authors proposed a hybridization of the target and complement sequences to shift the probe to an open conformation, which is detectable due to reduced interaction of the label pair or by detecting a signal from a non-interactive label.
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End-complementary polymerase reaction

TL;DR: In this paper, the authors present a process for amplifying and detecting any target nucleic acid sequence contained in a mixture of nucleic acids or mixture thereof and assembling large polynucleotides from component polynuclotides.
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Nucleic acid detection probes having non-FRET fluorescence quenching and kits and assays including such probes

TL;DR: Nucleic acid hybridization probes as discussed by the authors have a first conformation when not interacting with a target and a second conformation in the presence of a target, and the ability to bring a label pair into touching contact in one conformation but not the other.
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Methods for detection of genetic disorders

TL;DR: In this paper, the authors proposed a non-invasive method for the detection of chromosomal abnormalities in a fetus, which is especially useful for determining the sequence of fetal DNA.
References
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Journal ArticleDOI

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

TL;DR: A thermostable DNA polymerase was used in an in vitro DNA amplification procedure, the polymerase chain reaction, which significantly improves the specificity, yield, sensitivity, and length of products that can be amplified.
Journal ArticleDOI

Specific Enzymatic Amplification of DNA In Vitro: The Polymerase Chain Reaction

TL;DR: An alternative method for the synthesis of specific DNA sequences is explored that involves the reciprocal interaction of two oligonucleotides and the DNA polymerase extension products whose synthesis they prime, when they are hybridized to different strands of a DNA template in a relative orientation such that their extension products overlap.
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Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

TL;DR: The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.
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Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes.

TL;DR: The polymerase chain reaction (PCR) procedure is used to enzymatically amplify a specific segment of the β-globin or HLA-DQα gene in human genomic DNA before hybridization with ASOs, enabling the analysis of allelic variation with as little as 1 ng of genomic DNA and the use of a simple ‘dot blot’ for probe hybridization.
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The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein

TL;DR: The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length.
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