MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses i...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Janssen, B. [verfasserIn] Hartmann, C. [verfasserIn] Scholz, V. [verfasserIn] Jauch, A. [verfasserIn] Zschocke, J. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2005 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 6(2005), 1 vom: 18. Jan., Seite 29-35 |
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| Übergeordnetes Werk: |
volume:6 ; year:2005 ; number:1 ; day:18 ; month:01 ; pages:29-35 |
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| DOI / URN: |
10.1007/s10048-004-0204-1 |
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| 520 | |a Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. | ||
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10.1007/s10048-004-0204-1 doi (DE-627)SPR008229236 (SPR)s10048-004-0204-1-e DE-627 ger DE-627 rakwb eng Janssen, B. verfasserin aut MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. Becker muscular dystrophy (dpeaa)DE-He213 Duchenne muscular dystrophy (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 Molecular diagnostic techniques (dpeaa)DE-He213 Molecular diagnostic testing (dpeaa)DE-He213 Hartmann, C. verfasserin aut Scholz, V. verfasserin aut Jauch, A. verfasserin aut Zschocke, J. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 6(2005), 1 vom: 18. Jan., Seite 29-35 (DE-627)SPR00822823X nnns volume:6 year:2005 number:1 day:18 month:01 pages:29-35 https://dx.doi.org/10.1007/s10048-004-0204-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 6 2005 1 18 01 29-35 |
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10.1007/s10048-004-0204-1 doi (DE-627)SPR008229236 (SPR)s10048-004-0204-1-e DE-627 ger DE-627 rakwb eng Janssen, B. verfasserin aut MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. Becker muscular dystrophy (dpeaa)DE-He213 Duchenne muscular dystrophy (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 Molecular diagnostic techniques (dpeaa)DE-He213 Molecular diagnostic testing (dpeaa)DE-He213 Hartmann, C. verfasserin aut Scholz, V. verfasserin aut Jauch, A. verfasserin aut Zschocke, J. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 6(2005), 1 vom: 18. Jan., Seite 29-35 (DE-627)SPR00822823X nnns volume:6 year:2005 number:1 day:18 month:01 pages:29-35 https://dx.doi.org/10.1007/s10048-004-0204-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 6 2005 1 18 01 29-35 |
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10.1007/s10048-004-0204-1 doi (DE-627)SPR008229236 (SPR)s10048-004-0204-1-e DE-627 ger DE-627 rakwb eng Janssen, B. verfasserin aut MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. Becker muscular dystrophy (dpeaa)DE-He213 Duchenne muscular dystrophy (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 Molecular diagnostic techniques (dpeaa)DE-He213 Molecular diagnostic testing (dpeaa)DE-He213 Hartmann, C. verfasserin aut Scholz, V. verfasserin aut Jauch, A. verfasserin aut Zschocke, J. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 6(2005), 1 vom: 18. Jan., Seite 29-35 (DE-627)SPR00822823X nnns volume:6 year:2005 number:1 day:18 month:01 pages:29-35 https://dx.doi.org/10.1007/s10048-004-0204-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 6 2005 1 18 01 29-35 |
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10.1007/s10048-004-0204-1 doi (DE-627)SPR008229236 (SPR)s10048-004-0204-1-e DE-627 ger DE-627 rakwb eng Janssen, B. verfasserin aut MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. Becker muscular dystrophy (dpeaa)DE-He213 Duchenne muscular dystrophy (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 Molecular diagnostic techniques (dpeaa)DE-He213 Molecular diagnostic testing (dpeaa)DE-He213 Hartmann, C. verfasserin aut Scholz, V. verfasserin aut Jauch, A. verfasserin aut Zschocke, J. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 6(2005), 1 vom: 18. Jan., Seite 29-35 (DE-627)SPR00822823X nnns volume:6 year:2005 number:1 day:18 month:01 pages:29-35 https://dx.doi.org/10.1007/s10048-004-0204-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 6 2005 1 18 01 29-35 |
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10.1007/s10048-004-0204-1 doi (DE-627)SPR008229236 (SPR)s10048-004-0204-1-e DE-627 ger DE-627 rakwb eng Janssen, B. verfasserin aut MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. Becker muscular dystrophy (dpeaa)DE-He213 Duchenne muscular dystrophy (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 Molecular diagnostic techniques (dpeaa)DE-He213 Molecular diagnostic testing (dpeaa)DE-He213 Hartmann, C. verfasserin aut Scholz, V. verfasserin aut Jauch, A. verfasserin aut Zschocke, J. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 6(2005), 1 vom: 18. Jan., Seite 29-35 (DE-627)SPR00822823X nnns volume:6 year:2005 number:1 day:18 month:01 pages:29-35 https://dx.doi.org/10.1007/s10048-004-0204-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 6 2005 1 18 01 29-35 |
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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls |
| abstract |
Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. |
| abstractGer |
Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. |
| abstract_unstemmed |
Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative by multiplex PCR or FISH analysis. Partially incorrect results were subsequently identified in two families: the loss of exon 38 signal in one case was due to a p.Q1802X nonsense mutation, whilst in another patient an apparent deletion of exon 37 (coinciding with a duplication of exons 46–53) was caused by a p.R1735C polymorphism. In one case we found a complex rearrangement involving a duplication of two regions: dupEX45–48 and dupEX54–55. We conclude that MLPA is a highly sensitive and rapid alternative to multiplex PCR. It can be used on blood samples, chorionic villi and paraffin-embedded tissue. The ease of detection of duplications and the application for female carrier analysis are clearly the main advantages of the method. However, apparent single exon deletions detected by MLPA should be checked by an independent method. Complex rearrangements such as double mutations on the same allele are rare. |
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| title_short |
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls |
| url |
https://dx.doi.org/10.1007/s10048-004-0204-1 |
| remote_bool |
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| author2 |
Hartmann, C. Scholz, V. Jauch, A. Zschocke, J. |
| author2Str |
Hartmann, C. Scholz, V. Jauch, A. Zschocke, J. |
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| doi_str |
10.1007/s10048-004-0204-1 |
| up_date |
2024-07-03T18:06:18.720Z |
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