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

• 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
• ISSN: 0278-0240; 1875-8630
• DOI: 10.1155/2000/437372

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.