SNP genotyping in the β2-adrenergic receptor by electronic microchip assay, DHPLC, and direct sequencing

被引：9

作者：

Yoshida, N ^{[1
]}

Nishimaki, Y ^{[1
]}

Sugiyama, M ^{[1
]}

Abe, T ^{[1
]}

Tatsumi, T ^{[1
]}

Tanoue, A ^{[1
]}

Hirasawa, A ^{[1
]}

Tsujimoto, G ^{[1
]}

机构：

[1] Natl Res Inst Child Hlth & Dev, Dept Mol Cell Pharmacol, Setagaya Ku, Tokyo 1548567, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2002年 / 47卷 / 09期

关键词：

single-nucleotide polymorphisms (SNPs); beta(2)-adrenergic receptor (beta 2AR); electronic microchip; DHPLC; direct sequencing;

D O I：

10.1007/s100380200074

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The beta(2)-adrenergic receptor (beta2AR) is the key target for the beta(2)-agonist drugs used for bronchodilation in asthma and chronic obstructive pulmonary disease. To detect four SNPs with amino acid variations at positions -47T/C (CysBUP19Arg), 46A/G (Gly16Arg), 79C/G (Gln27Glu), and 491C/T (Thr164Ile) in the beta2AR gene, we used the electronic microchip assay, denaturing high-performance liquid chromatography (DHPLC), and direct sequencing. Genomic DNA samples were obtained from the blood of 84 Japanese healthy volunteers. The agreement rates of the first data set with the final data (allele calls) were 99.7% (332/333), 99.2% (246/248), and 96.7% (329/340). The percentages of no allele designation (ND) were 2.06% (7/340), 2.75% (7/255), and 0.00% (0/340) for the electronic microchip assay, DHPLC, and direct sequencing, respectively. Furthermore, we found three samples that had a novel haplotype.

引用

页码：500 / 503

页数：4

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