title: Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy.
abstract: RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: M
authors.initials: M
authors.lastname: Miller
authors.forename: C
authors.initials: C
authors.lastname: Boehm
authors.forename: M
authors.initials: M
authors.lastname: Cotton
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
mesh_terms: D001483:Base Sequence; D004277:DNA, Single-Stranded; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D004277:DNA, Single-Stranded; D016189:Dystrophin; D005819:Genetic Markers