Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness. This study was done to identify mutation in dystrophin gene in Nepalese patients with DMD using Multiplex Ligation Dependent Probe Amplif...
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| Format: | Article |
| Language: | English |
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Biotechnology Society of Nepal
2016-12-01
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| Series: | Nepal Journal of Biotechnology |
| Subjects: |
| _version_ | 1818645972787396608 |
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| author | Kushal Shrestha Smita Shrestha Saroj Khatiwada Bishu Acharya Sulochana Manandhar Rohit Kumar Pokharel |
| author_facet | Kushal Shrestha Smita Shrestha Saroj Khatiwada Bishu Acharya Sulochana Manandhar Rohit Kumar Pokharel |
| author_sort | Kushal Shrestha |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness. This study was done to identify mutation in dystrophin gene in Nepalese patients with DMD using Multiplex Ligation Dependent Probe Amplification (MLPA) assay in Nepal. Twenty one patients from different regions of Nepal, who were clinically diagnosed as DMD were enrolled in the study. Peripheral blood samples were collected in EDTA vials, gDNA was extracted, and deletion mutation in the dystrophin gene was analysed using Multiplex Ligation Dependent Probe Amplification (MLPA) assay. Exon deletion mutation in the dystrophin gene was observed in 14 (66.6%) out of 21 DMD cases. The most common exon deletion was observed and confined in exon 7-14 and 45-53 of dystrophin gene. The location of deletion in dystrophin gene is apparently non-random with a preponderance found in the hot spot regions. Use of MLPA is useful in detecting copy number changes in DMD proband and suspected carriers in Nepal. |
| first_indexed | 2024-12-17T00:39:14Z |
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| id | doaj.art-6f654b63d1fa4e46a291a67c0a3e0d27 |
| institution | Directory Open Access Journal |
| issn | 2091-1130 2467-9313 |
| language | English |
| last_indexed | 2024-12-17T00:39:14Z |
| publishDate | 2016-12-01 |
| publisher | Biotechnology Society of Nepal |
| record_format | Article |
| series | Nepal Journal of Biotechnology |
| spelling | doaj.art-6f654b63d1fa4e46a291a67c0a3e0d272022-12-21T22:10:04ZengBiotechnology Society of NepalNepal Journal of Biotechnology2091-11302467-93132016-12-0141374210.3126/njb.v4i1.16345Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular DystrophyKushal Shrestha0Smita Shrestha1Saroj Khatiwada2Bishu Acharya3Sulochana Manandhar4Rohit Kumar Pokharel5Central Department of Biotechnology, Tribhuvan University, KirtipurCentral Department of Biotechnology, Tribhuvan University, KirtipurDepartment of Biochemistry, Modern Technical College, LalitpurMuscular Dystrophy Foundation-Nepal (MDF-Nepal), LalitpurCenter for Molecular Dynamics-Nepal (CMDN)Muscular Dystrophy Foundation-Nepal (MDF-Nepal), Lalitpur and Department of Orthopedics and Trauma surgery, IOM, Tribhuvan University, KathmanduDuchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness. This study was done to identify mutation in dystrophin gene in Nepalese patients with DMD using Multiplex Ligation Dependent Probe Amplification (MLPA) assay in Nepal. Twenty one patients from different regions of Nepal, who were clinically diagnosed as DMD were enrolled in the study. Peripheral blood samples were collected in EDTA vials, gDNA was extracted, and deletion mutation in the dystrophin gene was analysed using Multiplex Ligation Dependent Probe Amplification (MLPA) assay. Exon deletion mutation in the dystrophin gene was observed in 14 (66.6%) out of 21 DMD cases. The most common exon deletion was observed and confined in exon 7-14 and 45-53 of dystrophin gene. The location of deletion in dystrophin gene is apparently non-random with a preponderance found in the hot spot regions. Use of MLPA is useful in detecting copy number changes in DMD proband and suspected carriers in Nepal.duchene muscular dystrophymultiplex ligation dependent probe amplificationmutationnepal |
| spellingShingle | Kushal Shrestha Smita Shrestha Saroj Khatiwada Bishu Acharya Sulochana Manandhar Rohit Kumar Pokharel Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy Nepal Journal of Biotechnology duchene muscular dystrophy multiplex ligation dependent probe amplification mutation nepal |
| title | Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy |
| title_full | Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy |
| title_fullStr | Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy |
| title_full_unstemmed | Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy |
| title_short | Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy |
| title_sort | multiplex ligation dependent probe amplification based mutation analysis of dystrophin gene in nepalese patients with duchenne muscular dystrophy |
| topic | duchene muscular dystrophy multiplex ligation dependent probe amplification mutation nepal |
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