Deletion mapping of Aland Island Eye Disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy

D. A.M. Pillers, Jeffrey Towbin, J. S. Chamberlain, D. Wu, J. Ranier, B. R. Powell, E. R.B. McCabe

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation-also known as Forsius-Eriksson, or type 2, ocular albinism-in which affected males demonstrate subnormal visual acuity, protanomalous red-green colorblindness, axial myopia, astigmatism, hypoplasia of the fovea, and hypopigmentation of the fundus. A patient has previously been described who, in addition to AIED, manifested a contiguous gene syndrome which included congenital adrenal hypoplasia (AHC), glycerol kinase deficiency (GKD), and Duchenne muscular dystrophy (DMD). In the present paper report we report the molecular genetic analysis of his deletion. Initially, multiplex polymerase-chain-reaction amplification was used to screen for a DMD-locus deletion which was then further characterized, using DMD cDNA and genomic probes, via Southern blot analysis. The deletion includes the region encompassed by probes C7 (DXS28) and DMD cDNA 8. Probes B24 (DXS67) and DMD cDNA 5b-7 show normal hybridization patterns and appear to flank the deletion, while the DMD cDNA 8 detects a junction fragment. Molecular genetic techniques have mapped the deletion in this patient to the subbands Xp21.3-21.2, between DXS67 and DMD.

Original languageEnglish (US)
Pages (from-to)795-801
Number of pages7
JournalAmerican Journal of Human Genetics
Volume47
Issue number5
StatePublished - Nov 21 1990
Externally publishedYes

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Duchenne Muscular Dystrophy
Complementary DNA
Hypopigmentation
Molecular Biology
Ocular Albinism
Genetic Techniques
Astigmatism
Multiplex Polymerase Chain Reaction
Myopia
Southern Blotting
Aland Island Eye Disease
Visual Acuity
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Pillers, D. A. M., Towbin, J., Chamberlain, J. S., Wu, D., Ranier, J., Powell, B. R., & McCabe, E. R. B. (1990). Deletion mapping of Aland Island Eye Disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. American Journal of Human Genetics, 47(5), 795-801.

Deletion mapping of Aland Island Eye Disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. / Pillers, D. A.M.; Towbin, Jeffrey; Chamberlain, J. S.; Wu, D.; Ranier, J.; Powell, B. R.; McCabe, E. R.B.

In: American Journal of Human Genetics, Vol. 47, No. 5, 21.11.1990, p. 795-801.

Research output: Contribution to journalArticle

Pillers, DAM, Towbin, J, Chamberlain, JS, Wu, D, Ranier, J, Powell, BR & McCabe, ERB 1990, 'Deletion mapping of Aland Island Eye Disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy', American Journal of Human Genetics, vol. 47, no. 5, pp. 795-801.
Pillers, D. A.M. ; Towbin, Jeffrey ; Chamberlain, J. S. ; Wu, D. ; Ranier, J. ; Powell, B. R. ; McCabe, E. R.B. / Deletion mapping of Aland Island Eye Disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. In: American Journal of Human Genetics. 1990 ; Vol. 47, No. 5. pp. 795-801.
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