title: Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods.
abstract: Duchenne's muscular dystrophy and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the dystrophin gene. In this project, 100 unrelated male patients were initially screened for deletions in the dystrophin gene by multiplex polymerase chain reaction, of whom 52 were positive. We performed the multiplex ligation-dependent probe amplification (MLPA) method on 43 of the remaining 48 patients, as well as 12 females suspected to be carriers, to detect deletions and duplications of their dystrophin gene. The MLPA method found deletions and duplications in 8 unidentified male patients. Sequencing revealed that in one case the deletion detected was a point mutation. One of 12 females was heterozygous for deletion of exons 49 and 50. In conclusion, the MLPA method proved to be reliable for studying affected males as well as female carriers.
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Faravareh
authors.initials: F
authors.lastname: Khordadpoor-Deilamani
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Zamani
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D017354:Point Mutation; D015203:Reproducibility of Results; D017384:Sequence Deletion
chemical_list: D016189:Dystrophin