Diagnosis of Fragile X Syndrome and DMD by using DIG System.

Lee, Sook Hwan; Cho, Sung Won; Han, Jung Hee; Lee, Kyo Won; Cha, Kwang Eun; Han, Se Yul; Kay, Chung Woong; Cho, Se Hyun; Oum, Ki Boong; Kwak, In Pyung

Original Article

Korean Journal of Obstetrics & Gynecology 1998;41(11):2849-2854.
Published online January 1, 2001.

Diagnosis of Fragile X Syndrome and DMD by using DIG System.

Sook Hwan Lee, Sung Won Cho, Jung Hee Han, Kyo Won Lee, Kwang Eun Cha, Se Yul Han, Chung Woong Kay, Se Hyun Cho, Ki Boong Oum, In Pyung Kwak

Abstract

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.

Key Words: Fragile X Syndrome, DMD, Nonradioactive, DIG DNA, Southern blot analysis