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Mutational Analysis of MECP2 Gene in 34 Rett Syndrome

Journal of the Korean Pediatric Society 2002;45(10):1263-1272.
Published online October 15, 2002.
Mutational Analysis of MECP2 Gene in 34 Rett Syndrome
Sang Jo Park1, Tae Gyu Hwang1, Byeong Hee Son2, Chul Min Kim3
1Department of Pediatrics, College of Medicine, Inje University, Busan Paik Hospital, Busan, Korea
2Department of Pediatrics, St. Benedict Hospita, Busan, Korea
3Department of Biochemistry, College of Medicine, Busan National University, Busan, Korea
Rett 증후군 34례의 MECP2 유전자 변이에 관한 연구
박상조1, 황태규1, 손병희2, 김철민3
1인제대학교 의과대학 부산백병원 소아과
2성분도병원 소아과
3부산대학교 의과대학 생화학교실
Correspondence: 
Byeong Hee Son, Email: pedson@medigate.net
Abstract
Purpose
: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients.
Methods
: Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed.
Results
: The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency.
Conclusion
: MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.
Key Words: Rett syndrome, MECP2


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