Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis
- Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)
- Univ. of Michigan, Ann Arbor, MI (United States)
- Howard Hughes Medical Institute, Houston, TX (United States) Baylore College of Medicine, Houston, TX (United States)
- Institut National de la Sante et de la Recherche Medicale Unite Associatee, Strasbourg (France)
The relationship between X chromosome-linked adrenoleukodystrophy and the red/green color pigment gene cluster on Xq28 was investigated in a large kindred. The DNA in a hemizygous male showed altered restriction fragment sizes compatible with at least a deletion extending from the 5[prime] end of the color pigment genes. Segregation analysis using a DNA probe within the color pigment gene cluster showed significant linkage with adrenoleukodystrophy (logarithm of odds score of 3.19 at [theta] = 0.0). These data demonstrate linkage, rather than association, between a unique molecular rearrangement in the color pigment gene cluster and adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the responsible gene. 33 refs., 4 figs.
- OSTI ID:
- 5147397
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 90:20; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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HUMAN X CHROMOSOME
GENETIC MAPPING
NERVOUS SYSTEM DISEASES
GENE MUTATIONS
ADRENAL GLANDS
CARBOXYLIC ACIDS
METABOLIC DISEASES
BODY
CHROMOSOMES
DISEASES
ENDOCRINE GLANDS
GLANDS
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
X CHROMOSOME
550400* - Genetics