Pawar H, Bingham E L, Hiriyanna K, Segal M, Richards J E, Sieving P A
Department of Ophthalmology, University of Michigan, Ann Arbor, USA.
Hum Hered. 1996 Nov-Dec;46(6):329-35. doi: 10.1159/000154373.
We studied 17 pedigrees with 108 affected males with X-linked juvenile retinoschisis (RS; McKusick No. 31270) and have analyzed all of the known polymorphic markers in the RS region of Xp22.1-p22.2 between DXS987 and DXS41. By haplotype analyses we found 7 individuals who showed crossovers in this interval surrounding RS. We previously reported AFM291wf5 as the centromeric boundary, and this remains unchanged in the present study. A new recombination was identified on the telomeric side at (DXS1195, DXS418). Our data support the locus order Xpter--(DXS987, DXS207, DXS1053, DXS43)--(DXS1195, DXS418)--(RS, DXS257, DXS999)--(AFM291wf5, DXS443)--DXS1052--(DXS1226, DXS274, DXS41)--Xcen; loci grouped in parentheses could not be mutually ordered by our genetic data. Physical mapping has indicated a distance of at most 900-1,000 kb between (DXS1195, DXS418) and AFM291wf5. No recombination was observed between RS and DXS257 which lies in our new interval of interest, but one critical individual was not informative with this marker. Our data now define the smallest RS inclusion interval. This interval is contained on a single YAC from which we have identified expressed sequences as candidate genes for RS.
我们研究了17个家系，其中有108名患有X连锁青少年视网膜劈裂症（RS；麦库西克编号31270）的男性，并分析了Xp22.1 - p22.2区域中RS区间内DXS987和DXS41之间所有已知的多态性标记。通过单倍型分析，我们发现有7个人在围绕RS的这个区间内出现了交叉。我们之前报道AFM291wf5作为着丝粒边界，在本研究中这一点保持不变。在端粒侧（DXS1195，DXS418）发现了一个新的重组。我们的数据支持基因座顺序为Xpter - -（DXS987，DXS207，DXS1053，DXS43） - -（DXS1195，DXS418） - -（RS，DXS257，DXS999） - -（AFM291wf5，DXS443） - - DXS1052 - -（DXS1226，DXS274，DXS41） - - Xcen；括号内分组的基因座无法通过我们的遗传数据相互排序。物理图谱显示（DXS1195，DXS418）和AFM291wf5之间的距离最多为900 - 1000 kb。在我们新关注的区间内，RS和DXS257之间未观察到重组，但有一个关键个体对此标记无信息。我们的数据现在确定了最小的RS包含区间。这个区间包含在一个单一的酵母人工染色体（YAC）上，我们已从该YAC中鉴定出表达序列作为RS的候选基因。
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