Xp21 contiguous gene syndromes: Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints

E. R.B. McCabe, J. A. Towbin, G. Van den Engh, B. J. Trask

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for the genomic map in Xp21. The bivariate flow karyotype results were compared with clinical and molecular genetic information on the extent of the patients' deletions, and these various types of data were consistent. The resulting map spans >15 Mb, from the telomeric interval between DXS41 (99-6) and DXS68 (L1-4) to a position centromeric to the ornithine transcarbamylase locus. The deletion sizing was considered to be accurate to ±1 Mb. The map provides information on the relative localization of genes and markers within this region. For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7). Information of this type is useful in developing genomic strategies for positional cloning in Xp21. These investigations demonstrate that the DNA from patients with Xp21 contiguous gene syndromes can be valuable reagents, not only for ordering loci and markers but also for providing an approximate scale to the map of the Xp21 region surrounding DMD.

Original languageEnglish (US)
Pages (from-to)1277-1285
Number of pages9
JournalAmerican Journal of Human Genetics
Volume51
Issue number6
StatePublished - Jan 1 1992

Fingerprint

Karyotyping
Gene Deletion
Duchenne Muscular Dystrophy
Genes
Glycerol Kinase
Ornithine Carbamoyltransferase
Karyotype
Organism Cloning
Molecular Biology
DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Xp21 contiguous gene syndromes : Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. / McCabe, E. R.B.; Towbin, J. A.; Van den Engh, G.; Trask, B. J.

In: American Journal of Human Genetics, Vol. 51, No. 6, 01.01.1992, p. 1277-1285.

Research output: Contribution to journalArticle

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