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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2006.1
- 수록면
- 119 - 125 (7page)
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Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- sing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were deter-mined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3 + 23C＞G) was newly identified in three of the patients. IVS3 + 23C＞G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymor-phisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.
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참고문헌 (22)
참고문헌 신청
/ / Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter : 723 ~ 6
/ 1999 / Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2. 23 : 185 ~ 8
/ 2000 / Comparative sequence analysis of the MECP2-locus in human and mouse re-veals new transcribed regions 11 : 182 ~ 90
/ 2000 / Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene 67 : 1428 ~ 36
/ 2000 / MECP2 mutation in male patients with non-specific X-linked mental retardation 22 : 285 ~ 8
/ 1999 / Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2. 23 : 185 ~ 8
/ 2000 / Comparative sequence analysis of the MECP2-locus in human and mouse re-veals new transcribed regions 11 : 182 ~ 90
/ 2000 / Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene 67 : 1428 ~ 36
/ 2000 / MECP2 mutation in male patients with non-specific X-linked mental retardation 22 : 285 ~ 8
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