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Gene mutation

Ingram, V.M. Gene mutation in human haemoglobin the chemical difference between normal and sickle cell haemoglobin. Nature 180 326-328, 1957. [Pg.46]

Given a large population of individuals, a considerable number of sequence variants can be found for a protein. These variants are a consequence of mutations in a gene (base substitutions in DNA) that have arisen naturally within the population. Gene mutations lead to mutant forms of the protein in which the amino acid sequence is altered at one or more positions. Many of these mutant forms are neutral in that the functional properties of the protein are unaffected by the amino acid substitution. Others may be nonfunctional (if loss of function is not lethal to the individual), and still others may display a range of aberrations between these two extremes. The severity of the effects on function depends on the nature of the amino acid substitution and its role in the protein. These conclusions are exemplified by the more than 300 human... [Pg.147]

Genotoxicity studies are required to identify compounds that can induce genetic damage ranging from single point gene mutations to gross alterations of chromosomal structure. Such effects are taken as indicative of the potential to cause cancer or heritable defects in humans. A standard battery of three types of test is recommended ... [Pg.66]

In summary, endosulfan was not shown to be genotoxic following oral exposure of rats, but the data are inconclusive. It induces chromosomal aberrations and gene mutations in mice and Drosophila. Further... [Pg.103]

Prokaryotic organisms Salmonella typhImurlumJA98, TA100 Gene mutation - - Pednekar et al. 1987... [Pg.163]

S. typhimurlum JA89, TA100, TA1535, TA1537, TA1538 Gene mutation No data - Moriya et al. 1983... [Pg.163]

Behn M., Schuermann M. Sensitive detection of p53 gene mutations by a mutant-enriched PCR-SSCP technique. Nucleic Acids Res. 1998 26 1356-1358. [Pg.176]

The Human Gene Mutation Database http //archive.uwcm.ac.uk/ uwcm/ mg/hgmdO.html... [Pg.639]

Protein C, protein S, antithrombin III, activated protein C resistance, lipoprotein(a) anticardiolipin antibodies, lupus anticoagulant, prothrombin gene mutation 20210a... [Pg.204]

Chromosomal aberrations Gene mutation Dominant lethal mutation Micronucleus formation Micronucleus formation Micronucleus formation Chromosomal aberrations Sister chromatid exchange Micronucleus formation Chromosomal aberrations Sister chromatid exchange DNA-protein cross-links Nondisjunction of Y chromosome in sperm DNA damage (single-strand breaks)... [Pg.157]

Saccharomyces cerevisiae (mouse host-mediated Gene mutation + Bronzetti et al. 1978... [Pg.158]

Salmonella typhimurium (stabilized TCE, preincubation assay) Gene mutation McGregor et al. 1989... [Pg.161]

S. typhimurium TAIOO (reverse mutation) Gene mutation Waskell 1978... [Pg.161]

Escherichia coli (forward and reverse mutation) Gene mutation +/- No data Greim et al. 1975... [Pg.161]


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Aldolase gene, mutations

Ames test, gene mutations

Antithrombin gene, mutations

Arabidopsis genes mutated

Ataxia telangiectasia mutated gene

BRCA gene mutation

Bacteria, gene mutation testing

CFTR gene mutations

Cadherin, mutated genes

Cell gene mutation test

Chinese hamster cells gene mutation testing

Cystic fibrosis gene mutation

Diploid human lymphoblast lines gene-locus mutation assays

Drug-related genes, mutations

Dystrophin gene mutations

Fas gene mutations

GNE gene mutations

Gene Mutation Assay Salmonella typhimurium

Gene locus mutation

Gene mutation assay

Gene mutation assays Ames test

Gene mutation assays bacterial

Gene mutation assays genotoxicity testing

Gene mutation assays interpretation

Gene mutation assays limitations

Gene mutation assays mammalian cells

Gene mutation assays mutant selection

Gene mutation assays principle

Gene mutation assays purpose

Gene mutation assays species used

Gene mutation assays strengths

Gene mutations, herbicide tolerance

Gene-alter mutation operator

Gene-locus mutation assays

Gene-locus mutation assays in diploid human lymphoblast lines

Gene-locus mutation assays thymidine kinase

Genes acid, Mutations

Genes mtDNA tRNA, point mutations

Genes mutations encoding proteins

Genetic toxicity gene mutations

Genotoxicity gene mutation assays

Genotoxicity testing gene mutations

Human Gene Mutation Database

Human Gene Mutation Database HGMD)

In vitro testing for gene mutation

Lacl gene, mutation

MECP2 gene mutation

Mammalian gene mutation assays

Methylenetetrahydrofolate gene mutation

Mitochondrial diseases nuclear gene mutations

Mitochondrial genes, mutations

Mitochondrial genes, mutations damage

Mitochondrial genes, mutations respiratory chain

Mitochondrial genes, mutations structure

Molecular consequence of mutations in the CFTR gene

Mutated ALS genes

Mutated genes, neurodegenerative disorder

Mutational approaches gene knock-outs

Mutations antibiotic resistance genes

Mutations in different genes

Mutations large gene

Mutations presenilin-1 gene

Mutator gene

Mutator gene

Neurospora crassa, gene mutation test

Nuclear genes, mutations

P53 gene mutation

PC-resistant Plants and their Mutated ALS Genes

Positive for point/gene mutation

Prothrombin gene, mutations

Ras gene mutation

Saccharomyces cerevisiae gene mutation assay test

Single gene mutations

Transthyretin gene mutation

VCP gene mutations

Vitro Tests for Gene Mutation in Bacteria

Vitro Tests for Gene Mutation in Mammalian Cells

Wilson disease gene mutations

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