CHROMOSOMAL REARRANGEMENT SEGREGATING WITH ADRENOLEUKODYSTROPHY - A MOLECULAR ANALYSIS

Authors
SACK GH ALPERN M WEBSTER T FEIL RP MORRELL JC CHEN G CHEN W CASKEY CT MOSER HW
Citation
Gh. Sack et al., CHROMOSOMAL REARRANGEMENT SEGREGATING WITH ADRENOLEUKODYSTROPHY - A MOLECULAR ANALYSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 90(20), 1993, pp. 9489-9493
Citations number
33
Categorie Soggetti
Multidisciplinary Sciences
Journal title
Proceedings of the National Academy of Sciences of the United Statesof America → ACNP
ISSN journal
00278424
Volume
90
Issue
20
Year of publication
1993
Pages
9489 - 9493
Database
ISI
SICI code
0027-8424(1993)90:20<9489:CRSWA->2.0.ZU;2-9
Abstract
The relationship between X chromosome-linked adrenoleukodystrophy and the red/green color pigment gene duster 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' end of the color pigment genes. Segregation analysis using a DNA p robe 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 an d adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the respon sible gene.