Winship I M, Babaya M, Ramesar R S
Department of Human Genetics, University of Cape Town Medical School, South Africa.
Genomics. 1993 Nov;18(2):444-5. doi: 10.1006/geno.1993.1495.
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.
伴有迟发性感觉神经性耳聋的X连锁眼白化病（OASD）是一种自主性疾病，会引发重大临床问题，导致患者在中年早期失明和失聪。经典的X连锁眼白化病（无耳聋；OA1）最近已与人类基因组Xp22.2 - Xp22.3区域的标记相关联。在本报告中，对一个患有OASD的南非大家族进行了分子水平研究，通过25次信息性减数分裂发现与Xp22.3处的DXS452位点紧密连锁，在重组率为0.00时最大lod分数为7.1。这些发现表明OA1和OASD是等位基因变体，或者它们可能是由于相邻基因缺陷所致。
