title: Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.
abstract: McLeod syndrome, characterized by acanthocytosis and the absence of a red-blood-cell Kell antigen (Kx), is a multisystem disorder involving a late-onset myopathy, splenomegaly, and neurological defects. The locus for this syndrome has been mapped, by deletion analysis, to a region between the loci for Duchenne muscular dystrophy (DMD) and chronic granulomatous disease (CGD). In this study, we describe a new marker, 3BH/R 0.3 (DXS 709), isolated by cloning the deletion breakpoint of a DMD patient. A long-range restriction map of Xp21, encompassing the gene loci for McLeod and CGD, was constructed, and multiple CpG islands were found clustered in a 700-kb region. Using the new marker, we have limited the McLeod syndrome critical region to 150-380-kb. Within this interval, two CpG-rich islands which may represent candidate sites for the McLeod gene were identified.
authors.affiliation: Human Genetics Laboratory, Imperial Cancer Research Fund, Oxford.
authors.forename: M F
authors.initials: MF
authors.lastname: Ho
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: L A
authors.initials: LA
authors.lastname: Blonden
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
mesh_terms: D015139:Blotting, Southern; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015226:Dinucleoside Phosphates / Q000235:genetics / Q000378:metabolism; D016521:Electrophoresis, Gel, Pulsed-Field; D008040:Genetic Linkage; D005819:Genetic Markers; D006105:Granulomatous Disease, Chronic / Q000235:genetics; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D013577:Syndrome; D014960:X Chromosome
chemical_list: D004247:DNA; D015226:Dinucleoside Phosphates; D005819:Genetic Markers; D007626:Kell Blood-Group System; C015772:CpG dinucleotide