title: A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study.
abstract: The results of a collaborative study involving about one third of the total DMD and BMD cases living in the Italian territory are reported. The analysis of the breakpoint frequency by intron revealed significant differences among regional groups of DMD patients (for introns 2, 11 and 50 in Sardinia and for introns 9 and 45 in northeastern Italy), whereas no regional differences were observed among regional groups of BMD patients. These differences involve the same Italian regions which previous studies, performed by different markers, identified as "genetically differentiated". The data support the possibility of a differential distribution among populations of some intronic sequences, facilitating the origin of deletion breakpoints within the dystrophin gene.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Mioni
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M
authors.initials: M
authors.lastname: Cau
authors.forename: S
authors.initials: S
authors.lastname: Colonna-Romano
authors.forename: A E
authors.initials: AE
authors.lastname: Covone
authors.forename: P
authors.initials: P
authors.lastname: De Leonardis
authors.forename: R
authors.initials: R
authors.lastname: De Leo
authors.forename: M G
authors.initials: MG
authors.lastname: Esposito
authors.forename: L
authors.initials: L
authors.lastname: Felicetti
mesh_terms: D016189:Dystrophin / Q000235:genetics; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy; D009136:Muscular Dystrophies / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D016189:Dystrophin; D005819:Genetic Markers