阿兰眼病：连锁数据。
Aland eye disease: linkage data.
作者信息
Schwartz M, Rosenberg T
机构信息
Department of Pediatrics, University Hospital, Copenhagen, Denmark.
出版信息
Genomics. 1991 Jun;10(2):327-32. doi: 10.1016/0888-7543(91)90315-6.
A large Danish family with Aland Island eye disease (AIED) was studied by linkage analysis using 16 polymorphic DNA markers covering the whole X chromosome. Positive lod scores were found for marker loci at the proximal part of the short arm of the X chromosome, DXS255 and TIMP (Zmax = 3.93 and 3.18 at theta = 0.0), suggesting an assignment of the locus for AIED to this part of the X chromosome. Recombination was observed with the locus DXS7 as well as with other loci distal to DXS7. These results are not in agreement with the deletion presented previously by D-A. M. Pillers et al. (1990, Am. J. Med. Genet. 36: 23-28), which mapped AIED to Xp21.
利用覆盖整个X染色体的16个多态性DNA标记，通过连锁分析对一个患有奥兰岛眼病（AIED）的丹麦大家庭进行了研究。在X染色体短臂近端的标记位点DXS255和TIMP发现了阳性连锁值（在θ = 0.0时，Zmax分别为3.93和3.18），这表明AIED的基因座定位于X染色体的这一部分。观察到与DXS7基因座以及DXS7远端的其他基因座发生了重组。这些结果与D - A. M. Pillers等人（1990年，《美国医学遗传学杂志》36: 23 - 28）之前提出的缺失情况不一致，他们将AIED定位到Xp21。
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