DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Complex glycerol kinase deficiency (CGKD) is a contiguous gene syndrome consisting of glycerol kinase deficiency together with Duchenne muscular dystrophy (DMD), congenital adrenal hypoplasia, and/or Aland Island eye disease. Deletion mapping of genomic DNA from patients with CGKD was carried out and allowed definitive ordering of loci DXS28 (C7), DXS68 (L1-4), and DXS67 (B24). Most reports have placed DXS68 centromeric to DXS28 and DXS67 on the basis of the initial mapping of the Iowa patient 3, but others have presented evidence consistent with the placement of DXS28 telomeric to DXS68 and DXS67. Through the use of DNA from CGKD patients with a variety of genomic deletions, this controversy is resolved and the order Xcen...DMD-DXS28-DXS68-DXS67...pter is definitively demonstrated.
Towbin
J A
JA
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
Chamberlain
J S
JS
Wu
D R
DR
Pillers
D A
DA
Seltzer
W K
WK
McCabe
E R
ER
D000309:Adrenal Insufficiency / Q000151:congenital* / Q000235:genetics; D000417:Albinism / Q000235:genetics*; D015139:Blotting, Southern; D002503:Centromere; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005991:Glycerol Kinase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010770:Phosphotransferases / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
D010770:Phosphotransferases; D005991:Glycerol Kinase