Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We...
Guardado en:
| Publicado: |
2014
|
|---|---|
| Materias: | |
| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0148639X_v49_n2_p249_Luce http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce |
| Aporte de: |
| id |
paper:paper_0148639X_v49_n2_p249_Luce |
|---|---|
| record_format |
dspace |
| spelling |
paper:paper_0148639X_v49_n2_p249_Luce2023-06-08T15:13:12Z Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype. Results: The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. © 2013 Wiley Periodicals, Inc. 2014 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0148639X_v49_n2_p249_Luce http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences |
| spellingShingle |
Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| topic_facet |
Carrier detection DMD Duchenne Dystrophin gene Molecular diagnosis dystrophin adult algorithm article child clinical article controlled study Duchenne muscular dystrophy dystrophinopathy exon familial disease female fetus gene deletion gene mutation genetic recombination germ line haplotype heterozygote human molecular diagnosis mosaicism multiplex ligation dependent probe amplification multiplex polymerase chain reaction pedigree prenatal diagnosis priority journal segregation analysis short tandem repeat Algorithms Argentina Dystrophin Exons Female Genetic Diseases, X-Linked Haplotypes Humans Male Molecular Diagnostic Techniques Muscular Dystrophies Muscular Dystrophy, Duchenne Mutation Pedigree Tandem Repeat Sequences |
| description |
Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype. Results: The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. © 2013 Wiley Periodicals, Inc. |
| title |
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| title_short |
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| title_full |
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| title_fullStr |
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| title_full_unstemmed |
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| title_sort |
molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm |
| publishDate |
2014 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0148639X_v49_n2_p249_Luce http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce |
| _version_ |
1768546295191961600 |