title: [Polymorphism of human MDR1 gene in the Siberian and central Asian populations].
abstract: The multidrug resistance gene (MDR1, ABCB1) encodes transmembrane P-glycoprotein an ATP-dependent transporter, which is involved in elimination of drugs, xenobiotics, peptides from a cell. It is expressed in such organs as a brain, kidneys, a liver, a gastroenteric tract. It is supposed, that this protein may take part in formation of individual resistance to action of adverse factors of an environment, such as toxic substances, xenobiotics and infectious diseases. A number of polymorphisms in MDR1 gene is associated with a expression level and functioning of the gene, as well as with the ability to eliminate drugs and with the resistance to various neurodegeneration and gastroenteric tract diseases. In this study the frequencies of five single nucleotide polymorphisms (SNPs) (3435C/T, 2677G/T/A, 1236C/T, +139C/T and -1G/A), located in MDR1 gene, frequencies of haplotypes, the genetic differentiation and linkage disequilibrium pattern in populations of Russians, Tuvinians, northern and southern Kirghizes are described. Significant genetic differences were found between populations of Russians and northern Kirghizes, and also between Tuvinians and northern Kirghizes. The linkage disequilibrium pattern is characterized by high population specificity.
authors.forename: Ia R
authors.initials: IaR
authors.lastname: Pel's
authors.forename: A V
authors.initials: AV
authors.lastname: Marusin
authors.forename: M G
authors.initials: MG
authors.lastname: Spiridonova
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D001209:Asia, Central; D044466:Asian People; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D012800:Siberia; D044465:White People
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1