RESUMO
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight genes encoding G protein-coupled receptors (GPCRs) by directly sequencing the entire relevant genomic regions except for repetitive-sequence elements. This approach identified 147 SNPs and 31 insertion/deletion polymorphisms among the eight GPCR genes. On average, we identified one SNP in every 584 nucleotides. Of the 147 SNPs, 69 were identified in AGTR1, 12 in AGTR2, nine in AGTRL1, 20 in AVPR1A, nine in AVPR2, 16 in DRD1, six in ITGA2B, and six in PTGIR. Twenty-one SNPs were located in 5' flanking regions, 76 in introns, 32 in exons, and 18 in 3' flanking regions. These variants should contribute to investigations of possible correlations between genotypes and phenotypes as regards susceptibility to disease or responsiveness to drug therapy.
Assuntos
Variação Genética , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Éxons , Genótipo , Humanos , Íntrons , Japão , Fenótipo , Glicoproteína IIb da Membrana de Plaquetas/genética , Reação em Cadeia da Polimerase , Receptor Tipo 1 de Angiotensina/genética , Receptor Tipo 2 de Angiotensina/genética , Receptores Dopaminérgicos/genética , Receptores de Prostaglandina/genética , Receptores de Vasopressinas/genética , Análise de Sequência de DNA , Regiões não Traduzidas/genéticaRESUMO
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes by directly sequencing the relevant genomic regions in their entirety except for repetitive elements. This approach identified 607 SNPs and 73 insertion/deletion polymorphisms among the 19 genes examined. Of the 607 SNPs, 284 were identified in CYP genes, 302 in esterase genes, and 21 in the other two genes ( GGT1, and TGM1); overall, 37 SNPs were located in 5' flanking regions, 496 in introns, 55 in exons, and 19 in 3' flanking regions. These variants should contribute to studies designed to investigate possible correlations between genotypes and phenotypes of disease susceptibility or responsiveness to drug therapy.
Assuntos
Sistema Enzimático do Citocromo P-450/genética , Esterases/genética , Variação Genética , Transglutaminases/genética , gama-Glutamiltransferase/genética , Genética Populacional , Genótipo , Humanos , Japão , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
We screened DNAs of 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six genes encoding proteins of the solute carrier (SLC) family by direct sequencing of their entire genomic regions except for repetitive-sequence elements. This approach identified 213 SNPs and 25 insertion/deletion polymorphisms among the six genes. On average, we identified 1 SNP in every 509 nucleotides. Of the 213 SNPs, 14 were identified in the SLC10A1 gene, 51 in SLC15A1, 29 in SLC22A1, 27 in SLC22A2, 54 in SLC22A4, and 38 in SLC22A5. Eight were located in 5' flanking regions, 172 in introns, 25 in exons, and 8 in 3' flanking regions. These variants should contribute to investigations of possible correlations between genotypes and phenotypes as regards disease susceptibilities or responsiveness to drug therapy.
Assuntos
Proteínas de Transporte/genética , Variação Genética , Genoma Humano , Genótipo , Humanos , Japão , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in genes encoding 13 cytochrome P450 (CYP) enzymes and 14 aldehyde dehydrogenases (ALDHs) by directly sequencing their entire genomic regions except for repetitive elements. This approach identified 810 SNPs and 96 insertion/deletion polymorphisms among the 27 genes. Of the 810 SNPs, 229 were identified among the CYP genes and 581 in the ALDH genes; of the total, 48 SNPs were located in 5' flanking regions, 619 in introns, 91 in exons, and 52 in 3' flanking regions. These variants should contribute to studies designed to investigate possible correlations between genotypes and phenotypes of disease susceptibility or responsiveness to drug therapy.
Assuntos
Aldeído Desidrogenase/genética , Sistema Enzimático do Citocromo P-450/genética , Variação Genética , Genótipo , Humanos , Japão , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight genes encoding the ATP-binding cassette, subfamily C (ABCC/ MRP/CFTR), by direct sequencing of their entire genomic regions, except repetitive sequence elements. This approach identified 688 SNPs and 91 insertion/deletion polymorphisms among the eight genes. Of the 688 SNPs, 81 were identified in the ABCC1 gene, 41 in ABCC2, 30 in ABCC3, 230 in ABCC4, 76 in ABCC5, 58 in CFTR, 102 in ABCC8. and 70 in ABCC9. Six SNPs were located in the 5' flanking regions, 617 in introns, 46 in exons, and 19 in the 3' flanking regions. These variants should contribute to studies that investigate possible correlations of genotypes with disease-susceptibility phenotypes and responsiveness or adverse effects to drugs.
Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Genoma Humano , Polimorfismo Genético , Variação Genética , Genótipo , Humanos , Proteína 2 Associada à Farmacorresistência Múltipla , Fenótipo , Análise de Sequência de DNA , Relação Estrutura-AtividadeRESUMO
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/deletion polymorphisms among the nine genes. Of the 297 SNPs, 50 were identified in the ABCB1 gene, 14 in TAP], 35 in TAP2, 48 in ABCB4, 13 in ABCB7, 21 in ABCB8, 21 in ABCB9, 13 in ABCB10, and 82 in ABCB11. Thirteen were located in 5' flanking regions, 237 in introns, 37 in exons, and 10 in 3' flanking regions. These variants may contribute to investigations of possible correlations between genotypes and disease-susceptibility phenotypes or responsiveness to drug therapy.