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Patent

Methods and compositions for detecting base pair mismatches

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TLDR
In this article, improved compositions and methods for detecting mutations, including single base changes, in nucleic acid sequences using RNase protection assays are presented. But the present method is not suitable for the detection of single base mismatches.
Abstract
The present invention discloses improved compositions and methods for detecting mutations, including single base changes, in nucleic acid sequences using RNase protection assays. The improvements include concomitant, dramatic reductions in the salt and RNase enzyme concentrations in the RNase digestion reaction mixture which result in greater sensitivity in detecting genetic mutations. Another embodiment of the present invention is kits to be used for the detection of single base mismatches in nucleic acid samples.

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Citations
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Materials and methods for detection of nucleic acids

TL;DR: In this article, a method for detecting target nucleic acids in a sample using non-natural bases is described, which involves contacting the sample with a reporter comprising a label and a nonnatural base complementary to the single-stranded region of the amplification product.
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TL;DR: In this paper, a method for analyzing a sample of double stranded DNA to determine the presence of a mutation therein comprises contacting the sample with a mutation site binding reagent, and chromatographically separating and detecting the product.
References
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Process for amplifying nucleic acid sequences

TL;DR: In this article, a process for amplifying any desired specific nucleic acid sequence contained in a mixture of nucleic acids or mixture thereof is described, which can be repeated as often as desired.
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Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

TL;DR: In this paper, a simple and efficient method for synthesizing pure single stranded RNAs of virtually any structure is described, based on the unusually specific RNA synthesis by bacteriophage SP6 RNA polymerase which initiates transcription exclusively at an SP6 promoter.
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p53: a frequent target for genetic abnormalities in lung cancer

TL;DR: These findings, coupled with the previous demonstration of 17p allele loss in lung cancer, strongly implicate p53 as an anti-oncogene whose disruption is involved in the pathogenesis of human lung cancer.
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Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers.

TL;DR: A gene, MCC, which encodes an 829-amino acid protein with a short region of similarity to the G protein-coupled m3 muscarinic acetylcholine receptor is identified and is a candidate for the putative colorectal tumor suppressor gene located at chromosome region 5q21.
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Characteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy

TL;DR: It is suggested that the precise definition of the disease-causing mutation can provide important prognostic information about affected members in families with hypertrophic cardiomyopathy.