듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene
1
조회
0
다운로드
1
인용
0
참고문헌
초록
Abstract
Background : Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness of dual priming oligonucleotide multiplex PCR (DPO PCR) in detection of exon deletions of DMD gene. Methods : Thirty-seven DMD or BMD patients who had known exon deletions detected by conventional multiplex PCR (conventional PCR) and nine control subjects were enrolled in this study. When a discrepancy was shown between the results of conventional PCR and DPO PCR, the multiplex ligation-dependent probe amplification (MLPA) technique was performed as a confirmation test. Results : The same deletions previously identified by conventional PCR in 32 out of 37 subjects were also detected by DPO PCR. For the five subjects (13.5%) showing discrepant results between the conventional PCR and DPO PCR, MLPA was performed and its results were found to correlate better with those of DPO PCR. The discrepancies were due to false positive or false negative results of the conventional PCR. Conclusions : DPO PCR shows a high agreement of results with the conventional PCR and is considered an adequate method to be used as a primary genetic test for the diagnosis of DMD. Because of an improved accuracy, especially for determining the boundaries of DMD gene deletions, DPO PCR can be very useful as a supplement to the conventional PCR. (Korean J Lab Med 2008;28:386-91)
참고문헌 (19)
- Emery AE., "Population frequencies of inherited neuromuscular diseases--a world survey", Neuromuscul Disord, 1, pp.19~29 (1991)
- Abbs S, "A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods", J Med Genet, 28, pp.304~311 (1991)
- Den Dunnen JT, "Reconstruction of the 2.4 Mb human DMDgene by homologous YAC recombination", Hum Mol Genet, 1, pp.19~28 (1992)
- Nobile C, "A refined restriction map of YAC clones spanning the entire human dystrophin gene", Mamm Genome, 5, pp.566~571 (1994)
- Ervasti JM, "Membrane organization of the dystrophin- glycoprotein complex", Cell, 66, pp.1121~1131 (1991)
- Ervasti JM, "A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin", J Cell Biol, 122, pp.809~823 (1993)
- Choi JR, "Genetic polymorphism analysis for the detection of Duchenne muscular dystrohpy carriers", Korean J Clin Pathol, 20, pp.236~241 (2000)
- van Essen AJ, "The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol", J Med Genet, 34, pp.805~812 (1997)
- Den Dunnen JT, "Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications", Am J Hum Genet, 45, pp.835~847 (1989)
- Koenig M, "Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals", Cell, 50, pp.509~517 (1987)
- AH, Koenig M, "Detection of 98% of DMD", BMD gene deletions by polymerase chain reaction, 1990, pp.86, 45~48
- 박수연, "Duchenne", Becker 근이영양증에서의 Dystrophin 유전자 분석, 2004, pp.12(1), 50~58[DOI]
- Chun JY, "Dual priming oligonucleotide system for the multiplex detection of respiratory viruses and SNP genotyping of CYP2C19 gene", Nucleic Acids Res, 35, pp.e40~ (2007)
- Lai KK, "Detecting exon deletions and duplications of the DMD gene using Multiplex Ligationdependent Probe Amplification (MLPA)", Clin Biochem, 39, pp.367~372 (2006)
- Chamberlain JS, "Multiplex PCR for the diagnosis of Duchenne muscular dystrophy in: PCR Protocols: A Guide to Methods and Applications", pp.272~281 (1990), Academic Press
- Fujimura FK, "Genotyping errors with the polymerase chain reaction", N Engl J Med, 322, pp.61~ (1990)
- Bergstrom DE, "Comparison of the base pairing properties of a series of nitroazole nucleobase analogs in the oligodeoxyribonucleotide sequence 5′-d(CGCXAATTYGCG)-3′", Nucleic Acids Res, 25, pp.1935~1942 (1997)
- Schouten JP, "Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification", Nucleic Acids Res, 30, pp.e57~ (2002)
- Monaco AP, "An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus", Genomics, 2, pp.90~95 (1988)