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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.6
- 수록면
- 123 - 126 (4page)
이용수
초록· 키워드
오류제보하기
Long QT Syndrome (LQT) is a congenital disease due to the failure of electrical system of the heart. We have analyzed KCNE1 gene which is known to be the cause of Type V LQT in Korean genome. Although SNPs of KCNE1 have been reported for Chinese and Malaysians no data are available for Korean people yet. PCR primers were prepared to investigate the sequences for normal and SNP at G30A, G112A, C162T. They were different only by 3' ends. Genomic DNAs were extracted from the people who were known to be normal clinically (35) or patients (20) with metabolic disease. As results, we were able to recognize several SNPs in these Korean samples. Some people were homozygous or heterozygous depending upon the type of SNP. This study should facilitate the research on the cause of Type V LQTs and to develop the further therapy at genetic level.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
1. [학술지(정기간행물)] - Curran ME / 1995 / A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome / Cell 80 : 795 ~ 803
2. [학술지(정기간행물)] - Dean JC / 1993 / Evidence of genetic and phenotypic heterogeneity in Romano-Ward syndrome / J Med Genet 30 : 947 ~ 950
3. [학술지(정기간행물)] - Hirao H / 1996 / Frequency-dependent electrophysiologic properties of ventricular repolarization in patients with congenital Fig. 2. Results of PCR reactions for KCNE1 polymorphisms (G30A, G112A, C162T, G253A). long QT syndrome / J Am Coll Cardiol 28 : 1269 ~ 1277
4. [학술지(정기간행물)] - Hori N / 1998 / Enhanced release of nitric oxide in response to changes in flow and shear stress in the superior mesenteric arteries of portal hypertensive rats / Hepatology 28 : 1467 ~ 1473
5. [학술지(정기간행물)] - Jervell A / 1957 / Congenital deaf-mutation, functional heart failure with prolongation of the QT Interval, and sudden death / Am heart J 54 : 59 ~ 68
2. [학술지(정기간행물)] - Dean JC / 1993 / Evidence of genetic and phenotypic heterogeneity in Romano-Ward syndrome / J Med Genet 30 : 947 ~ 950
3. [학술지(정기간행물)] - Hirao H / 1996 / Frequency-dependent electrophysiologic properties of ventricular repolarization in patients with congenital Fig. 2. Results of PCR reactions for KCNE1 polymorphisms (G30A, G112A, C162T, G253A). long QT syndrome / J Am Coll Cardiol 28 : 1269 ~ 1277
4. [학술지(정기간행물)] - Hori N / 1998 / Enhanced release of nitric oxide in response to changes in flow and shear stress in the superior mesenteric arteries of portal hypertensive rats / Hepatology 28 : 1467 ~ 1473
5. [학술지(정기간행물)] - Jervell A / 1957 / Congenital deaf-mutation, functional heart failure with prolongation of the QT Interval, and sudden death / Am heart J 54 : 59 ~ 68
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