Rapid molecular cytogenetic analysis of X-chromosomal microdeletions

Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency

K. C. Worley, E. A. Lindsay, W. Bailey, J. Wise, E. R B McCabe, A. Baldini

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring time-consuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families, using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosomal deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available.

Original languageEnglish
Pages (from-to)615-619
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume57
Issue number4
DOIs
Publication statusPublished - 1995

Fingerprint

Cytogenetic Analysis
Fluorescence In Situ Hybridization
Glycerol Kinase
Cosmids
Chromosomes
Duchenne Muscular Dystrophy
DNA
Gene Deletion
Southern Blotting
Prenatal Diagnosis
Cytogenetics
Genes
Hyperglycerolemia

Keywords

  • carrier detection
  • FISH
  • glycerol kinase deficiency
  • microdeletion diagnosis
  • prenatal diagnosis
  • X chromosome
  • Xp21

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions : Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. / Worley, K. C.; Lindsay, E. A.; Bailey, W.; Wise, J.; McCabe, E. R B; Baldini, A.

In: American Journal of Medical Genetics, Vol. 57, No. 4, 1995, p. 615-619.

Research output: Contribution to journalArticle

Worley, K. C. ; Lindsay, E. A. ; Bailey, W. ; Wise, J. ; McCabe, E. R B ; Baldini, A. / Rapid molecular cytogenetic analysis of X-chromosomal microdeletions : Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. In: American Journal of Medical Genetics. 1995 ; Vol. 57, No. 4. pp. 615-619.
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