Alitalo T, Kruse T A, Forsius H, Eriksson A W, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Am J Hum Genet. 1991 Jan;48(1):31-8.
Aland Island eye disease (AIED) is an X-chromosomal disorder characterized by reduced visual acuity, progressive axial myopia, regular astigmatism, latent nystagmus, foveal hypoplasia, defective dark adaptation, and fundus hypopigmentation. The syndrome was originally reported in 1964 in a family on the Aland Islands. To determine the localization of the AIED gene, linkage studies were performed in this family. total of 37 polymorphisms, covering loci on the entire X chromosome, were used. By two-point analysis the strongest evidence for linkage was obtained between AIED and DXS255 (maximum lod score [Zmax] 4.92 at maximum recombination fraction [theta max] .00). Marker loci DXS106, DXS159, and DXS1 also showed no recombination with AIED. Other positive lod scores at theta max .00 were obtained with markers localized in the XY homologous region in Xq13-q21, but the numbers of informative meioses were small. Multilocus linkage analysis indicated that the most probable location of AIED is in the pericentromeric region between DXS7 and DXS72. These results rule out localizations of AIED more distal on Xp that have been proposed by others. Our data do not exclude the possibility that AIED and incomplete congenital stationary night blindness are caused by mutations in the same gene. This question should be resolved by careful clinical comparison of the disorders and ultimately by the molecular dissection of the genes themselves.
奥兰岛眼病（AIED）是一种X染色体疾病，其特征为视力下降、进行性轴性近视、规则散光、潜在性眼球震颤、黄斑发育不全、暗适应缺陷和眼底色素减退。该综合征最初于1964年在奥兰岛上的一个家族中被报道。为了确定AIED基因的定位，对这个家族进行了连锁研究。总共使用了37个多态性标记，覆盖了整个X染色体上的位点。通过两点分析，在AIED与DXS255之间获得了最强的连锁证据（在最大重组率[θmax]为0.00时，最大对数优势分数[Zmax]为4.92）。标记位点DXS106、DXS159和DXS1也显示与AIED无重组。在θmax为0.00时，位于Xq13 - q21的XY同源区域内的标记也获得了其他阳性对数优势分数，但信息性减数分裂的数量较少。多位点连锁分析表明，AIED最可能的位置在DXS7和DXS72之间的着丝粒周围区域。这些结果排除了其他人提出的AIED在Xp上更远端的定位。我们的数据不排除AIED和不完全先天性静止性夜盲由同一基因突变引起的可能性。这个问题应该通过对这两种疾病进行仔细的临床比较，并最终通过对基因本身的分子剖析来解决。
