Journal ArticleDOI
Analysis of dystrophin gene deletions by multiplex PCR in eastern India.
Jayasri Basak,Uma B. Dasgupta,Tapas Kumar Banerjee,Asit Kumar Senapati,Shyamal Kumar Das,Subhash Chandra Mukherjee +5 more
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TLDR
DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene.Abstract:
The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e., between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.read more
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Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.
TL;DR: The systematic approach/algorithm used in this study offers the best possible economical mutation analysis in the Indian scenario.
Journal ArticleDOI
Duchenne muscular dystrophy: A clinical, histopathological and genetic study at a neurology tertiary care center in southern India
Bhairavi Swaminathan,GN Shubha,D Shubha,A. Ram Murthy,HB Kiran Kumar,S Shylashree,Narayanappa Gayathri,R Jamuna,Sanjeev Jain,Meera Purushottam,Atchayaram Nalini +10 more
TL;DR: In this study population in south India the deletion rate was 73% and were more frequent in the distal end exon and with the availability of genetic analysis, the first investigation of choice in DMD should be genetic studies and muscle biopsy should be considered only if the genetic tests are negative or not available.
Journal ArticleDOI
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
Fawziah M A Mohammed,Alaa Elshafey,Haya Al-balool,Hayat Al-Aboud,Mohammed Ali,Adel Baqer,Laila Bastaki +6 more
TL;DR: Data from DMD/BMD patients who attended the Kuwait Medical Genetic Center during the last 20 years was retrieved from a Kuwait neuromuscular registry and analyzed, revealing that 11 (16%) of the DMD families will benefit from newly introduced therapies (Ataluren and exon 51 skipping).
Journal ArticleDOI
CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene
Tatiana V. Egorova,Evgenia D. Zotova,Denis A. Reshetov,A. V. Polikarpova,Svetlana G. Vassilieva,Dmitry V. Vlodavets,Alexey A. Gavrilov,Sergey V. Ulianov,Sergey V. Ulianov,Vladimir L. Buchman,Alexei V. Deykin +10 more
TL;DR: A mouse model of the disease recapitulating a novel human mutation, a large de novo deletion of exons 8-34 of the DMD gene, found in a Russian DMD patient, is created, useful for validating therapies based on skipping exons that encode the N-terminal actin-binding domain.
Journal ArticleDOI
Autologous bone marrow mononuclear cell transplantation in Duchenne muscular dystrophy - a case report.
Alok Sharma,Hemangi Sane,Amruta Paranjape,Khushboo Bhagawanani,Nandini Gokulchandran,Prerna Badhe +5 more
TL;DR: A 9-year-old boy suffering from DMD was treated with serial autologous bone marrow mononuclear cell transplantations followed by multidisciplinary rehabilitation and electromyography findings showed development of new normal motor unit potentials of the vastus medialis muscle.
References
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A simple salting out procedure for extracting DNA from human nucleated cells
TL;DR: A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.
Journal ArticleDOI
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
Jeffrey S. Chamberlain,Richard A. Gibbs,Joel E. Rainer,Phi Nga Nguyen,Phi Nga Nguyen,C. Thomas,C. Thomas +6 more
TL;DR: This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus and it is demonstrated the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
Journal ArticleDOI
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
TL;DR: Using oligonucleotide primer sequences that can be used to amplify eight exons plus the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction (PCR) will allow deletion detection and prenatal diagnosis for most DMD/BMD patients in a fraction of the time required for Southern blot analysis.
Journal ArticleDOI
Proportion and Pattern of Dystrophin Gene Deletions in North Indian Duchenne and Becker Muscular Dystrophy Patients
Vinita Singh,Shirish Sinha,Sudhish Mishra,Lakshmi Shankar Chaturvedi,Sunil Pradhan,Rama Devi Mittal,Balraj Mittal +6 more
TL;DR: DNA samples from 121 unrelated DMD/BMD patients from North India were analyzed for deletional studies with multiplex PCR and Southern hybridization, and a total of 88 patients showed intragenic deletions in the dystrophin gene.
Journal ArticleDOI
Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain.
TL;DR: In the West Midlands region of Britain, Duchenne muscular dystrophy (DMD) is twice as common as expected in Indians, and is less common than expected in Pakistanis.