Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
View/Download PDF

Translate this page into:

Short Communication
4 (
2
); 227-229
doi:
10.4103/0976-3147.112777

Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India

Department of Neurology, Gauhati Medical college and Hospital, Guwahati, Assam, India

Dr. Ashok K Kayal Department of Neurology, Gauhati Medical College Hospital Indrapur, Guwahati - 781 032, Assam India akkayal.gmcneuro@gmail.com

Licence
This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Disclaimer:
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.

Abstract

ABSTRACT

Duchenne muscular dystrophy (DMD) is an X‑linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

Keywords

Duchenne muscular dystrophy
dystrophin gene
exon deletions
polymerase chain reaction

Conflict of Interest

None declared

References

  1. , . Population frequencies of inherited neuromuscular diseases: A world survey. Neuromuscul Disord. 1991;1:19-29.
    [Google Scholar]
  2. , , , , . Population frequencies of inherited neuromuscular diseases: A world survey."PCR Protocols: A guide to Methods and Applications," New York: Academic Press; . p. :p. 272-81. In: editors
    [Google Scholar]
  3. , , . Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990;85:613-9.
    [Google Scholar]
  4. , , , , , , et al . Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986;322:73-7.
    [Google Scholar]
  5. , , , , , , . Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gent in normal and affected individuals. Cell. 1987;50:509-17.
    [Google Scholar]
  6. , , , , , , . Further studies of gene deletions that cause Duchenne and Bcckcr muscular dystrophies. Genomics. 1988;2:109-14.
    [Google Scholar]
  7. , , , , , . Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation. Neurol India. 2008;56:248-53.
    [Google Scholar]
  8. , , . Gene deletions causing human genetic diseases: Mechanisms of mutagenesis and their role of local DNA sequences environment. Hum Genet. 1991;86:425-41.
    [Google Scholar]

Fulltext Views
1,295

PDF downloads
396
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections