Hanauer A, Alembik Y, Arveiler B, Formiga L, Gilgenkrantz S, Mandel J L
Unité 184 INSERM, Laboratorie de Génétique Moléculaire des Eucaryotes du CRNS, Strasbourg, France.
Hum Genet. 1988 Oct;80(2):177-80. doi: 10.1007/BF00702863.
Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic locus, DXS159, located in Xq11-q12 (z (theta) = 4.28 at theta = 0.05). Physical mapping places DSX159 proximal to the Xq12 breakpoint of an X autosome translocation found in a female with clinical signs of ectodermal dysplasia. Of all markers that have been used in linkage analysis of AED, DXS159 would appear the closest on the proximal side of the disease locus.
我们运用来自Xp11-q21区域的7个多态性DNA标记，通过连锁分析对3个患有无汗性外胚层发育不良（AED）的家系进行了研究。先前报道的与DXYS1（Xq13-q21）的连锁关系得到了证实（在θ = 0.05时，z(θ) = 4.08），并且我们还确定了与另一个位于Xq11-q12的多态性位点DXS159的连锁关系（在θ = 0.05时，z(θ) = 4.28）。物理图谱显示，DSX159位于一名有外胚层发育不良临床症状的女性所患X-常染色体易位的Xq12断裂点近端。在所有用于AED连锁分析的标记中，DXS159在疾病位点近端似乎是最接近的。
