Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

Am J Med Genet. 1988 Mar;29(3):557-64. doi: 10.1002/ajmg.1320290313.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acid Phosphatase / metabolism
  • Adrenal Insufficiency / congenital*
  • Adrenal Insufficiency / enzymology
  • Adrenal Insufficiency / genetics
  • Cell Line
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / genetics
  • Glycerol Kinase / deficiency*
  • Glycerol Kinase / genetics
  • Glycerol Kinase / metabolism
  • Humans
  • Male
  • Phosphotransferases / deficiency*
  • Sex Chromosome Aberrations
  • X Chromosome*

Substances

  • DNA
  • Phosphotransferases
  • Glycerol Kinase
  • Acid Phosphatase