Frequent alterations of visual pigment genes in adrenoleukodystrophy

P. R. Auborg, George Henry Sack, H. W. Moser

Research output: Contribution to journalArticle

Abstract

Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.

Original languageEnglish (US)
Pages (from-to)408-413
Number of pages6
JournalAmerican Journal of Human Genetics
Volume42
Issue number3
StatePublished - 1988

Fingerprint

Adrenoleukodystrophy
Retinal Pigments
Color Vision Defects
Genes
Chromosomes, Human, X
Genetic Recombination

ASJC Scopus subject areas

  • Genetics

Cite this

Frequent alterations of visual pigment genes in adrenoleukodystrophy. / Auborg, P. R.; Sack, George Henry; Moser, H. W.

In: American Journal of Human Genetics, Vol. 42, No. 3, 1988, p. 408-413.

Research output: Contribution to journalArticle

@article{5566c7fdee00488682dbd2b41dacb8a9,
title = "Frequent alterations of visual pigment genes in adrenoleukodystrophy",
abstract = "Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.",
author = "Auborg, {P. R.} and Sack, {George Henry} and Moser, {H. W.}",
year = "1988",
language = "English (US)",
volume = "42",
pages = "408--413",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",

}

TY - JOUR

T1 - Frequent alterations of visual pigment genes in adrenoleukodystrophy

AU - Auborg, P. R.

AU - Sack, George Henry

AU - Moser, H. W.

PY - 1988

Y1 - 1988

N2 - Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.

AB - Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.

UR - http://www.scopus.com/inward/record.url?scp=0023921836&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023921836&partnerID=8YFLogxK

M3 - Article

C2 - 2894755

AN - SCOPUS:0023921836

VL - 42

SP - 408

EP - 413

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -