초록
본 연구에서는 ion-pair reversed-phase high performance liquid chromatography (IP-RP-HPLC)방식을 이용한 denaturing high performance liquid chromatography (DHPLC)방법을 사용하여 기관지 천식을 조절하는 ${\beta}_2$-교감신경수용체 유전자의 돌연변이를 검출하였다. 50명의 천식 환자의 혈액에서 genomic DNA를 추출하여 중합효소연쇄반응 (polymerase chain reaction, PCR)을 이용해 증폭하고, 그 산물을 DHPLC로 분석한 결과, 50개의 시료 가운데 15개 (30%)의 돌연변이를 검출하였다. 최종적으로 유전자 염기서열결정법을 통해 DHPLC의 돌연변이 검출률이 정확함을 확인하였다.
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.