title: Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
abstract: Duchenne muscular dystrophy (DMD) is one of the most common and severe X-linked disorders with an incidence of approximately 1 in 3500 newborn males. In more than 60% of DMD patients, deletions of part or all of the dystrophin gene have been shown. Despite this, carrier detection still poses a problem in some cases, because of the enormous size of the gene and the lack of sufficient numbers of informative markers. Here, we report the isolation and characterization of two additional microsatellite markers (IVS44SK12 and IVS44SK21) in intron 44 of the dystrophin gene. Both markers are useful for carrier detection either by indirect DNA analysis or by direct proof of loss of heterozygosity.
authors.affiliation: Institut für Humangenetik, Westfälische Wilhelms Universität, Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Köchling
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: B
authors.initials: B
authors.lastname: Dworniczak
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D004276:DNA, Satellite / Q000032:analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D016189:Dystrophin; D005819:Genetic Markers