title: Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
abstract: We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed: Xpter - L1 - AHC - GK - DMD - Xcen. One of the boys with DMD, GK, and AHC is shown by pulsed-field-gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus.
authors.affiliation: Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom.
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: M N
authors.initials: MN
authors.lastname: Patterson
authors.forename: S J
authors.initials: SJ
authors.lastname: Kenwrick
authors.forename: M V
authors.initials: MV
authors.lastname: Bell
authors.forename: H R
authors.initials: HR
authors.lastname: Sloan
authors.forename: J A
authors.initials: JA
authors.lastname: Westman
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
authors.forename: J
authors.initials: J
authors.lastname: Mahan
mesh_terms: D000135:Acid Phosphatase / Q000378:metabolism; D000309:Adrenal Insufficiency / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D010770:Phosphotransferases / Q000172:deficiency*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
chemical_list: D004247:DNA; D010770:Phosphotransferases; D005991:Glycerol Kinase; D000135:Acid Phosphatase