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DIG System을 이용한 후레자일 X 증후군 ( Fragile X Syndrome ) 과 근이영양증 ( DMD ) 의 진단
이숙환(Sook Hwan Lee),조성원(Sung Won Cho),한정희(Jung Hee Han),이교원(Kyo Won Lee),한종설,차광은(Kwang Eun Cha),한세열(Se Yul Han),계정웅(Chung Woong Kay),조세현(Se Hyun Cho),엄기붕(Ki Boong Oum),곽인평(In Pyung Kwak) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.11
The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy (DMD). Southern blot analysis is accurate test showing expression of the (CGG)n repeat and abnormal methylation pattern of CpG island in hagile X syndrome, and good confirmative secondary test in case of deletion in DMD. But in terms of test rapidity, these conventional radioactive Southern analysis may not be feasible for rapid screening of prenatal samples and at-risk populations to determine their status and to provide genetic counseling to their families. As an alternative radioactive Southern blotting, DIG DNA labeling and detection system does not require handling of radioactive material nor require learning any new technology. The complete procedure of labeling the DNA and hybridization to detection of the first visible signal can be compbsbed witbin 7 days. In addition, hybridization solutions containing labeled DNA can be reused several times after renewed denaturation.
일측 다운 증후군을 동반한 쌍태 임신에서 임신 중반기 선택적 유산
전혜선(Hye Sun Jun),김숙경(Suk Kyung Kim),조주연(Joo Yun Cho),이숙환(Sook Hwan Lee),이혜경(Lee Hye Kyung),계정웅(Kay Chung Woong) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.2
A 33-year-old-woman with twin pregnancy underwent genetic amniocentesis in our hospital at 16 weeks of gestation. Fetal chromosomal analysis showed 46,XY,inv(9) and 47,XX,+21. The affected twin was terminated by ultrasonographically guided intracardiac injection of 3 ml potassium chloride solution at 19 weeks of gestation. A healthy 2570 g male infant was born by cesarean section with Apgar scores of 8 and 9 at one and five minutes, respectively.