PCR-mediated detection of a polymorphism in the ATM gene

Autor:	P. Maillet, G. Vaudan, A.-P. Sappino, P O Chappuis
Rok vydání:	1999
Předmět:	Population Cell Cycle Proteins Ataxia Telangiectasia Mutated Proteins Biology Protein Serine-Threonine Kinases Polymerase Chain Reaction law.invention Exon Ataxia Telangiectasia Gene Frequency Polymorphism (computer science) law Reference Values Humans Point Mutation Site-directed mutagenesis education Deoxyribonucleases Type II Site-Specific Molecular Biology Gene Polymerase chain reaction Alleles Polymorphism Single-Stranded Conformational Genetics education.field_of_study Polymorphism Genetic Transition (genetics) Tumor Suppressor Proteins Proteins Single-strand conformation polymorphism Cell Biology Exons Molecular biology DNA-Binding Proteins Amino Acid Substitution Mutagenesis Site-Directed Polymorphism Restriction Fragment Length
Zdroj:	Molecular and cellular probes. 13(1)
ISSN:	0890-8508
Popis:	In this report, the frequency of the G→A transition polymorphism at nucleotide 5557 in exon 39 of the coding sequence of the gene mutated in ataxia-telangiectasia (ATM) was analysed. The frequency of the A and G alleles was estimated in the general population at 0·15 and 0·85, respectively. This polymorphism can be identified by single-strand conformation polymorphism (SSCP) and by a simple and rapidDdeI digestion after polymerase chain reaction (PCR)-mediated site directed mutagenesis (PSDM).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838854bb8b5e1728370e09362ea2b064 https://pubmed.ncbi.nlm.nih.gov/10024435 Zobrazit plný text záznamu Full Text from ScienceDirect