X连锁视网膜劈裂症的DNA连锁分析
DNA linkage analysis of X-linked retinoschisis.
作者信息
Dahl N, Goonewardena P, Chotai J, Anvret M, Pettersson U
机构信息
Department of Medical Genetics, University of Uppsala, Sweden.
出版信息
Hum Genet. 1988 Mar;78(3):228-32. doi: 10.1007/BF00291666.
Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.
利用11个多态性X染色体标记，通过连锁分析对4个患有青少年视网膜劈裂症（RS）的家系进行了研究。结果表明，DXS43、DXS41和DXS208与位于Xp22的RS基因座紧密连锁。RS基因座位于鸟氨酸转氨甲酰酶（OTC）基因座、DXS84和杜氏肌营养不良症（DMD）基因座的远端，但在DXS85的近端。在RS基因座与DXS43和DXS41之间未观察到重组事件。因此，重组率（θ）的最大似然估计值为零，峰值连锁对数（z）分别为4.98（DXS43）和4.09（DXS41）。连锁数据表明，Xp上的基因顺序为DXS85-（DXS43、RS、DXS41）-DMD-DXS84-OTC。
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