title: Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
abstract: Facioscapulohumeral muscular dystrophy is caused by partial deletion of the D4Z4 repeat array on chromosome 4q35. Genetic diagnosis is based on sizing of this repeat array, which is complicated by cross-hybridization of a homologous polymorphic repeat array on chromosome 10 and by the frequent exchanges between these chromosomal regions. The restriction enzyme XapI optimizes the diagnosis of facioscapulohumeral muscular dystrophy by uniquely digesting 4-derived repeat units and leaving 10-derived repeat units undigested, thus complementing BlnI, which uniquely digests 10-derived repeat units. A triple analysis with EcoRI, EcoRI/BlnI, and XapI unequivocally allows characterization of each of the four alleles, whether homogeneous or hybrid. This is particularly useful in the case of identical sized 4-derived and 10-derived arrays, in situations of suspected facioscapulohumeral muscular dystrophy with nonstandard allele configurations, and for assignment of hybrid fragments to their original alleles.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.
authors.lastname: Lemmers RJL
authors.forename: P
authors.initials: P
authors.lastname: de Kievit
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.forename: M J
authors.initials: MJ
authors.lastname: van der Wielen
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: G W
authors.initials: GW
authors.lastname: Padberg
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: S M
authors.initials: SM
authors.lastname: van der Maarel
mesh_terms: D000368:Aged; D000483:Alleles; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004262:DNA Restriction Enzymes / Q000235:genetics / Q000378:metabolism*; D016521:Electrophoresis, Gel, Pulsed-Field; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics*; D009426:Netherlands; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D004262:DNA Restriction Enzymes