title: Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in the majority of cases by deletions of the DMD gene and are readily detectable in affected males by multiplex polymerase chain reaction (PCR). However, different approaches must be used for the identification of female carriers, in which deletions are not detectable by PCR, because of the presence of a normal X chromosome. In this study, we used the multiple ligation probe amplification (MLPA) tool for the identification of female carriers of DMD deletions or duplications in 12 families with a single affected male, 10 of which were previously diagnosed as carriers of a DMD rearrangement, and the remaining two as having an unknown disease-causing mutation. In all the investigated affected males, MLPA analysis confirmed the presence of a DMD rearrangement, and in six of them allowed the refinement of the breakpoints. In 12 female relatives of the affected patients, MLPA analysis showed a DMD deletion or duplication, confirming their carrier status. Two of these were the mother and the sister of a patient whose disease-causing mutation was not known. MLPA analysis thus proved to be an useful tool for the analysis of both affected males and females carriers of DMD rearrangements in cases in which the disease-causing mutation in the affected male was not known, providing useful information for the genetic counselling of the family.
authors.affiliation: Department of Biomedical Sciences, G. D'Annunzio University Foundation, Chieti, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.forename: Oronzo
authors.initials: O
authors.lastname: Scarciolla
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Gaspari
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: De Angelis
authors.forename: Antonio
authors.initials: A
authors.lastname: Di Muzio
authors.forename: Paolo
authors.initials: P
authors.lastname: Guanciali-Franchi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Antonino
authors.initials: A
authors.lastname: Uncini
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
mesh_terms: D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis / Q000379:methods*; D015342:DNA Probes; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity
chemical_list: C484258:DMD protein, human; D015342:DNA Probes; D016189:Dystrophin