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
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
Citations
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Journal ArticleDOI
Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
TL;DR: This significant gene deletion analysis has been carried out for Becker muscular dystrophy patients particularly from Western India using 32 exons.
Journal ArticleDOI
Multiple exon skipping strategies to by-pass dystrophin mutations
C. Adkin,Penelope L. Meloni,Sue Fletcher,Abbie M. Adams,Francesco Muntoni,Brenda Wong,Steve D. Wilton +6 more
TL;DR: This work presents strategies to by-pass intra-exonic dystrophin mutations that clearly demonstrate the importance of tailoring exon skipping strategies to specific patient mutations.
Journal ArticleDOI
Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India.
Sadanand Dey,Asit Kumar Senapati,Alak Pandit,Atanu Biswas,Deb Sankar Guin,Anindita Joardar,Sarnava Roy,Goutam Gangopadhyay +7 more
TL;DR: The positivity of PCR- based diagnosis is higher in this study possibly related to highly selective group of patients, and Phenotype and genotype correlation was not seen.
Journal ArticleDOI
Duchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation
TL;DR: The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy in India and underscores the need for earlier referral, genetic counseling and provision of support and rehabilitation services.
Journal ArticleDOI
Sensitivity and frequencies of dystrophin gene mutations in Thai DMD/BMD patients as detected by multiplex PCR
TL;DR: The multiplex PCR detected deletions only in about half of the Thai patients, and the diseases should not be excluded solely on the negative result if DMD/BMD is strongly suspected.
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.