Topic
Gene mutation
About: Gene mutation is a research topic. Over the lifetime, 41460 publications have been published within this topic receiving 1351309 citations.
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TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Abstract: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.
6,118 citations
Journal Article•
TL;DR: It appeared that ras gene mutations can be found in a variety of tumor types, although the incidence varies greatly and some evidence that environmental agents may be involved in the induction of the mutations.
Abstract: Mutations in codon 12, 13, or 61 of one of the three ras genes, H-ras, K-ras, and N-ras, convert these genes into active oncogenes. Rapid assays for the detection of these point mutations have been developed recently and used to investigate the role mutated ras genes play in the pathogenesis of human tumors. It appeared that ras gene mutations can be found in a variety of tumor types, although the incidence varies greatly. The highest incidences are found in adenocarcinomas of the pancreas (90%), the colon (50%), and the lung (30%); in thyroid tumors (50%); and in myeloid leukemia (30%). For some tumor types a relationship may exist between the presence of a ras mutation and clinical or histopathological features of the tumor. There is some evidence that environmental agents may be involved in the induction of the mutations.
5,367 citations
TL;DR: Novel nucleic acid probes that recognize and report the presence of specific nucleic acids in homogeneous solutions that undergo a spontaneous conforma-tional change when they hybridize to their targets are developed.
Abstract: We have developed novel nucleic acid probes that recognize and report the presence of specific nucleic acids in homogeneous solutions. These probes undergo a spontaneous fluorogenic conformational change when they hybridize to their targets. Only perfectly complementary targets elicit this response, as hybridization does not occur when the target contains a mismatched nucleotide or a deletion. The probes are particularly suited for monitoring the synthesis of specific nucleic acids in real time. When used in nucleic acid amplification assays, gene detection is homogeneous and sensitive, and can be carried out in a sealed tube. When introduced into living cells, these probes should enable the origin, movement, and fate of specific mRNAs to be traced.
4,584 citations
Book•
01 Jan 1937
TL;DR: In this article, the authors present a taxonomy of diverse and diverse populations in the United States, including the following: 1.ORGANIC DIVERSITY 3 GENE MUTATION 15 MUTation as a basis for RACIAL and SPECIFIC DIFFERENCES 39 CHROMOSOMAL CHANGES 73 VARIATION in NATURAL POPULATION 118 SELECTION 149 POLYPLOIDY 192 ISOLATING MECHANISMS 228 HYBRID STERILITY 259 SPECIES AS NATUREAL UNITS 303 L
Abstract: ORGANIC DIVERSITY 3 GENE MUTATION 15 MUTATION AS A BASIS FOR RACIAL AND SPECIFIC DIFFERENCES 39 CHROMOSOMAL CHANGES 73 VARIATION IN NATURAL POPULATIONS 118 SELECTION 149 POLYPLOIDY 192 ISOLATING MECHANISMS 228 HYBRID STERILITY 259 SPECIES AS NATURAL UNITS 303 LITERATURE 323 INDEX 353
4,074 citations
Book•
01 Jan 1994
TL;DR: Methodology for General and Molecular Microbiology Morphology Light microscopy Determinative and cytological light microscopy Electron microscopy Cell fractionation Antigen-antibody reactions Growth: Physicochemical factors in growth Nutrition and media Enrichment and isolation Solid, liquid/solid and semisolid culture Liquid culture Growth measurement Culture preservation Molecular Genetics: Gene mutation Gene transfer in Gram-negative bacteria Gene transferIn Gram-positive bacteria Plasmids Transposon mutagenesis
Abstract: Methodology for General and Molecular Microbiology Morphology Light microscopy Determinative and cytological light microscopy Electron microscopy Cell fractionation Antigen-antibody reactions Growth: Physicochemical factors in growth Nutrition and media Enrichment and isolation Solid, liquid/solid and semisolid culture Liquid culture Growth measurement Culture preservation Molecular Genetics: Gene mutation Gene transfer in Gram-negative bacteria Gene transfer in Gram-positive bacteria Plasmids Transposon mutagenesis Gene cloning and expression Polymerase chain reaction Nucleic acid analysis Metabolism: Physical analysis Chemical analysis Enzymatic activity Permeability and transport Systematics: Phenotypic characterization DNA sequence similarities Ribosomal RNA hybridization and gene sequencing Nucleic acid probes General Methods: Laboratory safety Photography Records and reports
3,742 citations