Greer W L, Somani A K, Kwong P C, Peacocke M, Rubin L A, Siminovitch K A
Department of Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
Genomics. 1990 Mar;6(3):568-71. doi: 10.1016/0888-7543(90)90489-h.
Twelve families with Wiskott-Aldrich syndrome (WAS) were studied by linkage analysis using 10 polymorphic marker loci from the X-chromosome pericentromeric region. The results confirm close linkage of WAS to the DXS14, DXS7, TIMP, and DXZ1 loci and are consistent with previous data suggesting that WAS maps to the proximal Xp and is flanked by the DXS14 and DXS7 loci. The strongest linkage (Z = 10.19 at theta = 0.00) was found to be between WAS and the hypervariable DXS255 locus, a marker locus already mapped between DXS7 and DXS14 and which was informative for all meioses included in this analysis. Linkage of the WAS to two pericentromeric Xq loci, DXS1 and PGK1, was also established. On the basis of these results, accurate predictive testing should now be feasible in the majority of WAS families.
运用来自X染色体着丝粒周围区域的10个多态性标记位点，通过连锁分析对12个患有威斯科特-奥尔德里奇综合征（WAS）的家庭进行了研究。结果证实WAS与DXS14、DXS7、TIMP和DXZ1位点紧密连锁，并且与之前的数据一致，这些数据表明WAS定位于Xp近端，两侧分别是DXS14和DXS7位点。发现WAS与高度可变的DXS255位点之间存在最强的连锁关系（在θ = 0.00时Z = 10.19），DXS255是一个已定位在DXS7和DXS14之间的标记位点，并且对该分析中包含的所有减数分裂都具有信息性。还确定了WAS与两个着丝粒周围的Xq位点DXS1和PGK1的连锁关系。基于这些结果，现在在大多数WAS家庭中进行准确的预测性检测应该是可行的。
