Mutation Analysis in β2-Adrenergic Receptor Gene by Denaturing High Performance Liquid Chromatography (DHPLC)

DHPLC를 이용한 β2-교감신경수용체 유전자에서의 돌연변이 분석

  • Received : 2002.01.18
  • Published : 2002.06.25


We analysed mutation of ${\beta}_2$-adrenergic receptor gene that controls bronchial asthma by denaturing high performance liquid chromatography (DHPLC) according to ion-pair reversed-phase high performance liquid chromatography (IP-RP-HPLC). We extracted genomic DNA from 50 asthma patients, amplified DNA using PCR, and analysed PCR product by DHPLC. As a result, we obtained that mutation frequency was 15 (30%) among 50 cases. Consequently DHPLC mutation detection was confirmed that the result of direct sequencing was coincide exactly.




  1. W. Xiao and P. J. Oefner, Hum. Mutat., 17, 439-474 (2001)
  2. T. R. Skopek, W. E. Glaab, J. J. Monroe, K. L. Kort and W. Schaefer, Mutat. Res., 430, 13-21 (1999)
  3. L. A. Ellis, C. F. Taylor and G. R. Taylor, Hum. Mutat., 15, 556-64 (2000)
  4. C. G. Huber and N. Berti, Anal. Chem., 68, 2959-2965 (1996)
  5. A. C. Jones, J. Austin, N. Hansen, B. Hoogendoorn, P. J. Oefner, J. P. Cheadle and M. C. O'Donovan, Clin. Chem., 45, 1133-1140 (1999)
  6. T. R. Skopek, W. E. Glaab, J. J. Monroe, K. L. Kort and W. Schaefer, Mutat. Res., 430, 13-21 (1999)
  7. E. Gross, N. Arnold, K. Pfeifer, K. Bandick and M. Kiechle, Hum. Mutat., 16, 345-353 (2000)
  8. T. Wagner, D. Stoppa-Lyonnet, E. Fleischmann, D. Muhr, S. Pages, T. Sandberg, V. Caux, R. Moslinger, G. Langbauer, A. Borg and P. J. Oefner, Genomics, 62, 369-376 (1999)
  9. N. F. Hansen and P. J. Oefner, U.S. Patent 5795976 (1997)
  10. P. J. Oefner and G. K. Bonn, Amer. Lab., 26, 28C - 28J (1994)
  11. M. L. Nickerson, G. Weirich, B. Zbar and L. S. Schmidt, Hum. Mutat., 16, 68-76 (2000)
  12. P. J. Oefner and P. A. Underhill, U.S. Patent 5795976 (1998)
  13. P. Benit, A. Kara-Mosterfa, M. Berthelon, K. Sengmany, A. Munnich and J. P. Bonnefont, Hum. Mutat., 16, 417-421 (2000)