X连锁青少年视网膜劈裂症与Xp22.1-p22.3探针的连锁关系。
Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes.
作者信息
Sieving P A, Bingham E L, Roth M S, Young M R, Boehnke M, Kuo C Y, Ginsburg D
机构信息
Department of Ophthalmology, University of Michigan, Ann Arbor 48105.
出版信息
Am J Hum Genet. 1990 Oct;47(4):616-21.
Linkage analysis was performed to evaluate the relationship between the locus for X-linked juvenile retinoschisis (RS) and five X-chromosomal markers-RC8 (DXS9), SE3.2L (DXS16), 99-6 (DXS41), D2 (DXS43), and 782 (DXS85)-all mapped to the interval Xp22.1-p22.3. Seven U.S. families with 56 affected males were studied. No recombinants were found between RS and DXS9 with a maximum lod score (Z) of 4.93 at a recombination fraction of zero. Obligate recombinants were found for RS with DXS16, DXS41, DXS43, and DXS85. Multipoint linkage analysis and consideration of recombination events within pedigrees suggest that DXS41 and DXS43, and also DXS41 and DXS16, flank RS and that DXS85 lies outside the interval DXS41-DXS43. Our pedigrees provide no evidence for genetic heterogeneity of RS, with five of our families individually showing evidence of linkage. (Z greater than 2.0) to the least one of these probes from Xp22.1-p22.3.
进行连锁分析以评估X连锁青少年视网膜劈裂症（RS）基因座与五个X染色体标记——RC8（DXS9）、SE3.2L（DXS16）、99-6（DXS41）、D2（DXS43）和782（DXS85）之间的关系，所有这些标记都定位于Xp22.1-p22.3区间。研究了七个美国家庭中的56名患病男性。在重组率为零时，RS与DXS9之间未发现重组体，最大对数优势分数（Z）为4.93。RS与DXS16、DXS41、DXS43和DXS85之间发现了必然重组体。多位点连锁分析以及对家系内重组事件的考虑表明，DXS41和DXS43以及DXS41和DXS16位于RS两侧，而DXS85位于DXS41-DXS43区间之外。我们的家系没有提供RS基因异质性的证据，我们的五个家系分别显示出与Xp22.1-p22.3区间至少一个这些探针连锁的证据（Z大于2.0）。
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