title: Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.
abstract: BACKGROUND
  Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.
  
  
  RESULTS
  Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.
  
  
  CONCLUSIONS
  MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.
authors: 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain.
authors: Susana
authors: S
authors: Garcia
authors: 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain. ; 2. Instituto de Investigación Biosanitaria ibs. Granada, Spain.
authors: Tomás
authors: T
authors: de Haro
authors: 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain.
authors: Mercedes
authors: M
authors: Zafra-Ceres
authors: 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain.
authors: Antonio
authors: A
authors: Poyatos
authors: 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain. ; 2. Instituto de Investigación Biosanitaria ibs. Granada, Spain. ; 3. Departamento de Bioquímica y Biología Molecular III e Inmunología. Facultad de Medicina. Universidad de Granada. Avd/ Madrid s/n 18071, Granada, Spain.
authors: Jose A
authors: JA
authors: Gomez-Capilla
authors: 4. Departamento de Bioquímica y Biología Molecular II. Instituto de Nutrición y Tecnología de los Alimentos "José Mataix". Centro de Investigaciones Biomédicas. Universidad de Granada. Avd/ Conocimiento s/n 18100 Armilla, Granada, Spain.
authors: Carolina
authors: C
authors: Gomez-Llorente
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D013030:Spain; D055815:Young Adult
chemical_list: D016189:Dystrophin
keywords: Duchénnè/Becker; Multiplex Ligation-dependent Probe Amplification (MLPA); de novo mutations.