title: Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: deletion detection and familial diagnosis.
abstract: Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin-embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is of great utility because it enables analysis of material stored in pathology archives. PCR deletion detection, useful in DMD-affected boys, is problematic in determining the carrier state in female relatives. For this reason, to perform familial linkage diagnosis, we made use of a dinucleotide repeat polymorphism (STRP, or short tandem repeat polymorphism) located in intron 49 of the gene. We designed a new pair of primers that enabled the detection of 22 different alleles in relatives in the 14 DMD families studied. The use of this marker allowed familial diagnosis in 11 of the 14 DMD families and detection of de novo deletions in 3 of the probands.
authors.affiliation: Genetics Department, University of Navarra, Pamplona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Patiño
authors.forename: J
authors.initials: J
authors.lastname: Narbona
authors.forename: M
authors.initials: M
authors.lastname: García-Delgado
mesh_terms: D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013030:Spain; D014960:X Chromosome / Q000235:genetics
chemical_list: D017931:DNA Primers; D005819:Genetic Markers