Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete c...

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Bibliographic Details
Published in:	Disease markers Vol. 16; no. 3-4; pp. 125 - 129
Main Authors:	EFFAT, Laila K, EL-HAROUNI, Ashraf A, AMRA, Khalda S, EL-MINISI, Tarik I, MEGUID, Nagwa Abdel, EL-AWADY, Mostafa
Format:	Journal Article
Language:	English
Published:	Amsterdam IOS Press 2000 Oxford Berlin
Subjects:	Adolescent Adult Alleles Asia - epidemiology Biological and medical sciences Child Child, Preschool Creatine Kinase - blood Creatine Kinase, MM Form Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis Dystrophin - deficiency Dystrophin - genetics Egypt - epidemiology Electromyography Exons - genetics Gene Deletion Gene Frequency Genetic Testing Humans Isoenzymes - blood Male Medical sciences Muscular Dystrophy, Duchenne - blood Muscular Dystrophy, Duchenne - genetics Neurology Other Pedigree Polymerase Chain Reaction Russia - epidemiology United States - epidemiology Africa Egypt Asia United States Russia Chromosomal aberration Human Becker muscular dystrophy Neuromuscular diseases Nervous system diseases Family study Medical screening Genetic determinism Genetic disease Gene Duchenne muscular dystrophy Deletion Abnormal chromosome Mutation Dystrophin
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Summary:	Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phosphokinase enzyme (CPK) levels and DNA analysis. Multiplex PCR using 18 pairs of specific primers were used for screening of deletion mutations within the dystrophin gene. A frequency of 55% among the families. Sixty per cent of detected deletions involved multiple exons spanning the major or the minor hot spot of the dystrophin gene. The remainder 40% which mainly involved exon 45. Comparing these findings with frequencies of other countries it was found that our figures fall within the reported range of 40%- distribution of deletions in our study and other different studies was variable and specific ethnic differences do not apparently account for specific deletions. In addition this study concluded that employment of the 18 exon analysis is a cost effective and a highly accurate (97% to launch a nationwide program.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0278-0240 1875-8630
DOI:	10.1155/2000/437372