X-linked ocular albinism and sensorineural deafness: Linkage to Xp22. 3
- Univ. of Cape Town Medical School (South Africa)
X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and deaf by early middle age. Classical X-linked ocular albinism (without deafness; OA1) has recently been linked to markers in the Xp22.2-Xp22.3 region of the human genome. In the present report, a large South African family with OASD was investigated at the molecular level and tight linkage was found to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.00. These findings suggest that OA1 and OASD are allelic variants or that they may be due to contiguous gene defects. 12 refs., 1 fig.
- OSTI ID:
- 6975461
- Journal Information:
- Genomics; (United States), Vol. 18:2; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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