Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 5 Issue 1
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- Pages.65-75
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- 2005
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- 2287-4712(pISSN)
A Study on the Screening of the Novel Genes Associated with Lysosomal Trafficking and Mutation Detection in Fibroblasts of the Patients with Mucolipidosis type II and III
리소좀 교통 이상을 초래하는 뮤코지방증 2형과 3형 환자의 섬유아세포를 이용한 신규 유전자 탐색 및 돌연변이에 대한 연구
- Song, Seng Mi (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University, School of Medicine) ;
- Chang, Soo Hee (Clinical Research Cneter, Samsung Biomedical Research Institute) ;
- Paik, Kyung Hoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University, School of Medicine) ;
- Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University, School of Medicine)
- 송승미 (성균관 대학교 의과대학 삼성서울병원 소아과) ;
- 장수희 (삼성생명과학연구소) ;
- 백경훈 (성균관 대학교 의과대학 삼성서울병원 소아과) ;
- 진동규 (성균관 대학교 의과대학 삼성서울병원 소아과)
- Published : 2005.07.02
Abstract
Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the
목적: 뮤코지방증 유형 II와 III은 리소좀 효소인N-acetylglucosaminyl-1-phosphotransferase (UDP-N-acetylglucosamine, GlcNAc-phospho-transferase)의 결손에 의해 초래되며, 상염색체 열성으로 유전되는 질환이다.
Keywords
- mucolipidosis type II;
- mucolipidosis type III;
- phosphotransferase;
- mutation detection;
- GlcNAc-phosphotransferase;
- GNPTA;
- MGC4170