ABCMdb

PMID: 10790226

Decleves X, Chevillard S, Charpentier C, Vielh P, Laplanche JL
A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein.
Hum Mutat. 2000 May;15(5):486., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCB1 p.Asn21Asp HUMAN MUTATION Mutation and Polymorphism Report #115 (2000) Online Mutation and Polymorphism Report Authors: Xavier Declèves , Sylvie Chevillard2 , Charlotte Charpentier1 , Philippe Vielh3 , and Jean-Louis Laplanche1 Affiliations: 1 Service de Biochimie et Biologie Moléculaire, hôpital Lariboisière, Paris, France; 2 Laboratoire de cancérogenèse expérimentale, Commissariat à l`Energie Atomique, Fontenay aux Roses, France; 3 Service de cytopathologie, Institut Curie, Paris, France Corresponding Author Address and E-mail: Xavier Declèves, Service de Biochimie et Biologie Moléculaire, hôpital Lariboisière, 2 rue Ambroise Paré 75010 Paris, France; E-mail: xavier.decleves@inserm.lrb.ap-hop-paris.fr Title : A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein Keywords: P-glycoprotein; multidrug resistance-1; MDR1; ABCB1 Species: Homo sapiens Change is: Polymorphism Gene/Locus Name: ATP-biding cassette B1 (multidrug resistance 1) Symbol: ABCB1 Genbank accession number: M14758 (cDNA) OMIM accession number: 171050 Locus specific database: Chromosomal location: 7q21 Inheritance: Mutation / polymorphism name Nucleotide change-Systematic name: c485A>G Amino acid change-Trivial name: N21D Mutation / polymorphism type: Missense Polymorphism frequency: Detection method: DGGE Detection conditions: Sequence of primers: Forward primer 5`-psoralen-AAGGTCGGGATGGATCTTGAA-3` Reverse primer 5`-GTTCCCACCACCATATACAA-3` PCR conditions: 30 cycles, denaturation 94°C (1 min) annealing 55°C (2 min) elongation 72°C (2 min), magnesium concentration 1.5 mM Electrophoresis: 20%-60% denaturant concentration (100% denaturant: 7M urea, 40% formamide), 58 degrees, 3 hours, 160 volts. Login to comment 17 ABCB1 p.Gly185Val (1988) showed for the first time that the G185V variant of P-gp was responsible for preferential resistance to colchicine in multidrug resistance KB cells. Login to comment 20 ABCB1 p.Asn21Asp Direct sequencing revealed a change of A to G at position 485 (cDNA sequence) leading to a change of asparagine to aspartic acid at position 21 which is located in the first intracellular domain of P-gp. Login to comment