Deletional mutations of dystrophin gene and carrier detection in eastern India

Objective To determine the pattern of deletions of the dystrophin gene, the major class of mutations among the Duchenne and Becker muscular dystrophy patients of eastern India and to analyze the carrier frequency of the female members of the proband’s family. Methods Deletional mutations occurring i...

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Bibliographic Details
Published in:Indian journal of pediatrics 2009-10, Vol.76 (10), p.1007-1012
Main Authors: Basak, Jayasri, Dasgupta, Uma B., Mukherjee, Subhash Chandra, Das, Shyamal Kumar, Senapati, Asit Kumar, Banerjee, Tapas Kumar
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Distribution
Age of Onset
Biological and medical sciences
Child
Child, Preschool
Cross-Sectional Studies
DNA Mutational Analysis
Dystrophin - genetics
Female
General aspects
Genetics, Population
Germ-Line Mutation - genetics
Gynecology
Health Surveys
Heterozygote
Humans
Incidence
India - epidemiology
Male
Medical sciences
Medicine
Medicine & Public Health
Middle Aged
Muscular Dystrophy, Duchenne - diagnosis
Muscular Dystrophy, Duchenne - epidemiology
Muscular Dystrophy, Duchenne - genetics
Original Article
Pediatrics
Polymerase Chain Reaction
Risk Assessment
Sequence Deletion - genetics
Sex Distribution
Young Adult
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Summary:Objective To determine the pattern of deletions of the dystrophin gene, the major class of mutations among the Duchenne and Becker muscular dystrophy patients of eastern India and to analyze the carrier frequency of the female members of the proband’s family. Methods Deletional mutations occurring in patients have been characterized by multiplex polymerase chain reaction. Carrier state of mothers and sisters of probands were analyzed by either of two methods: 1) typing polymorphic short tandem repeat markers in or around the regions of deletion, by radioactive polymerase chain reaction and 2) quantitative real time amplification of the region of deletion. Results Deletions were detected in 67 (62.04%) out of 108 male patients, about 76.12% of these being localized in the central hot spot region of the gene, i.e., between exon 42 to exon 53 and 17.91% at the proximal hot spot i.e., between exon 1 to exon 20. In the present study were found 43 types of deletions, out of which 25 (58%) were new deletions, which were not described earlier among the Indian patients. Distribution pattern of deletions in different hot spot regions has been compared with that of other countries and statistical analysis reveals significant difference between countries (p
ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-009-0214-y