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
Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder
TL;DR: The current study emphasizes advantages and shortcomings of multiplex PCR with reference to most of the past studies along with its challenges for DMD detection in detail.
Journal ArticleDOI
Polymorphisms of three new microsatellite sites of the dystrophin gene.
TL;DR: The three microsatellite sites in the intron region of the dystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy.
Journal ArticleDOI
Duchenne muscular dystrophy: Genetic and clinical profile in the population of Rajasthan, India
TL;DR: The pattern of deletion, obtained in the population of Rajasthan was similar when compared with other ethnic groups of the Indian population, which would be helpful for researchers to develop drugs specific to exons or for ongoing mutation-specific therapies.
Non-invasive genetic diagnosis of Duchenne Muscular Dystrophy probands using salivary DNA
TL;DR: Saliva could be used as a source of genomic DNA for use in PCR based genetic analysis and if standardized, this could be cost effective and less invasive and will benefit the children and old patient too for the diagnosis of all genetic disorders.
Journal ArticleDOI
Biochemistry, Cytogenetics and DMD Gene Mutations in South Indian Patients with Duchenne Muscular Dystrophy
Arun Meyyazhagan,N. M. Raman,Murugesh Easwaran,Balamuralikrishnan Balasubramanian,Karthick Kumar Alagamuthu,H. Kuchi Bhotla,S. Shanmugam,K. Inbaraj,M Ramesh Kumar,Popin Kumar,Lokesh Thangamani,Shanmughavel Piramanayagam,Vijesh Anand,Younis Mohd,Sang Chan Park,O. Teijido,J.C. Carril,P. Cacabelos,Sasikala Keshavarao,R. Cacabelos +19 more
TL;DR: This study suggests that disease progression is directly associated with higher incidence of the deletions at the distal ‘hot spot’ of the DMD gene.
References
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Journal ArticleDOI
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.