title: Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
abstract: The McLeod phenotype is an X-linked, recessive disorder in which the red blood cells demonstrate acanthocytic morphology and weakened antigenicity in the Kell blood group system. The phenotype is associated with a reduction of in vivo red cell survival, but the permanent hemolytic state is usually compensated by erythropoietic hyperplasia. The McLeod phenotype is accompanied by either a subclinical myopathy and elevated creatine kinase (CK) or X-linked chronic granulomatous disease (CGD). Seven males with the McLeod red-blood-cell phenotype and associated myopathy but not CGD, one male with the McLeod phenotype associated with CGD, and two males known to possess large deletions of the Duchenne muscular dystrophy (DMD) locus were studied. DNA isolated from each patient was screened for the presence or absence of various cloned sequences located in the Xp21 region of the human X chromosome. Two of the seven males who have only the McLeod phenotype and are cousins exhibit deletions for four Xp21 cloned fragments but are not deleted for any portion of either the CGD or the DMD loci. Comparison of the cloned segments absent from these two McLeod cousins with those absent from the two DMD boys and the CGD/McLeod patient leads to the submapping of various cloned DNA segments within the Xp21 region. The results place the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus toward the DMD locus.
authors: Howard Hughes Medical Institute, Boston, MA 02115.
authors: C J
authors: CJ
authors: Bertelson
authors: A O
authors: AO
authors: Pogo
authors: A
authors: A
authors: Chaudhuri
authors: W L
authors: WL
authors: Marsh
authors: C M
authors: CM
authors: Redman
authors: D
authors: D
authors: Banerjee
authors: W A
authors: WA
authors: Symmans
authors: T
authors: T
authors: Simon
authors: D
authors: D
authors: Frey
authors: L M
authors: LM
authors: Kunkel
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
chemical_list: D004247:DNA