Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
- 1 November 1993
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 2 (11) , 1949-1951
- https://doi.org/10.1093/hmg/2.11.1949
Abstract
A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified vla positional cloning strategies. We now report messenger RNA expression in flbroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.Keywords
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