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논문 기본 정보

자료유형
학술저널
저자정보
Yum, Mi-Sun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Jin-Joo (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Choi, Seung Hoon (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Joo Yeon (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Kim, Jae-Min (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Ko, Tae-Sung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Yoo, Han-Wook (Department of Pediatrics)
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제10권 제1호
발행연도
2013.1
수록면
33 - 37 (5page)

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Purpose: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of CTG repeats preclude the accurate determination of repeat size. We tried to show the clinical and analytical validity of the application of Southern blotting after long-range PCR was demonstrated in Korean DM1 patients. Materials and Methods: The Southern blotting of long-range PCR was applied to 1,231 cases with clinical suspicion of DM1, between 2000 and 2011. PCR was performed using genomic DNA with forward 5'-CAGTTCACAACCGCTCCGAGC-3' and reverse 5'-CGTGGAGGATGGAACACGGAC-3' primers. Subsequently, the PCR fragments were subjected to gel electrophoresis, capillary transfer to a nylon membrane, hybridization with a labeled (CAG)10 probe. The correlation between clinical manifestations and the CTG repeat expansions were analyzed. Results: Among a total of 1,231 tested cases, 642 individuals were diagnosed with DM1 and the range of the detected expansion was 50 to 2,500 repeats; fourteen cases with mild DM1 ($75{\pm}14$ repeats), 602 cases with classical DM1 ($314{\pm}143$ repeats), and 26 cases with congenital DM1 ($1,219{\pm}402$ repeats). The positive and negative predictive values were 100%. The age at test requested and the CTG repeat numbers were inversely correlated (R=-0.444, P<0.01). Conclusion: This study indicates that Southern blotting after long-range PCR is a reliable diagnostic method DM1.
#Myotonic dystrophy 1 #Southern blotting #Long-range PCR #Genetic testing

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참고문헌 (19)

참고문헌 신청
Kamsteeg EJ / 2012 / Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 / Eur J Hum Genet 20:1203~1208 google schola Turner C / 2010 / The myotonic dystrophies: diagnosis and management / J Neurol Neurosurg Psychiatry 81:358~367 google schola Lavedan C / 1993 / Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism / Am J Hum Genet 52:875~883 google schola Harley HG / 1993 / Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy / Am J Hum Genet 52:1164~1174 google schola Gennarelli M / 1996 / Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats / Am J Med Genet 65:342~347 google schola

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