title: High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling.
abstract: Duchenne muscular dystrophy (DMD) is the most common lethal hereditary neuromuscular disease. As there is no effective treatment, accurate carrier detection is essential for genetic counseling and prevention. Although linkage analysis has been widely used for this purpose, being an indirect analysis it has several limitations. Using linkage analysis for carrier detection, we found serious limitations, mainly because 82.9% of all proposita were isolated cases. We used quantitative polymerase chain reaction for direct carrier detection in families with exon deletions and found a higher than expected frequency of de novo deletions (62.2%). Furthermore, only 20.7% of the mothers of isolated deletion DMD/Becker muscular dystrophy (BMD) patients were found to be carriers. This result suggests that the Mexican population has a high frequency of de novo DMD mutations.
authors.affiliation: Department of Research in Human Genetics, National Institute of Pediatrics, Del. Coyoacán, D.F., México.
authors.forename: M A
authors.initials: MA
authors.lastname: Alcántara
authors.forename: M T
authors.initials: MT
authors.lastname: Villarreal
authors.forename: V
authors.initials: V
authors.lastname: Del Castillo
authors.forename: G
authors.initials: G
authors.lastname: Gutiérrez
authors.forename: Y
authors.initials: Y
authors.lastname: Saldaña
authors.forename: I
authors.initials: I
authors.lastname: Maulen
authors.forename: R
authors.initials: R
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Macías
authors.forename: L
authors.initials: L
authors.lastname: Orozco
mesh_terms: D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008800:Mexico; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D003402:Creatine Kinase