X连锁视网膜劈裂症的基因定位改进
Improved genetic mapping of X linked retinoschisis.
作者信息
George N D, Payne S J, Bill R M, Barton D E, Moore A T, Yates J R
机构信息
Molecular Genetics Laboratory, Addembrooke's NHS Trust, Cambridge, UK.
出版信息
J Med Genet. 1996 Nov;33(11):919-22. doi: 10.1136/jmg.33.11.919.
X linked retinoschisis (RS) causes poor vision in affected males owing to radial cystic changes at the macula. Genetic linkage analysis was carried out in 16 British families with X linked retinoschisis using markers from the Xp22 region. Linkage was confirmed between the RS locus and the markers DXS207 (lod score, Zmax = 17.9 at recombination fraction theta = 0.03; confidence interval for theta = 0.007-0.09), DXS1053 (Zmax = 18.0 at theta = 0.01, CI = 0.001-0.06), DXS43 (Zmax = 12.9 at theta = 0.03, CI = 0.004-0.09), DXS1195 (Zmax = 6.4 at theta = 0.00), DXS418 (Zmax = 8.2 at theta = 0.00), DXS999 (Zmax = 21.2 at theta = 0.01, CI = 0.001-0.05), DXS443 (Zmax = 14.2 at theta = 0.03, CI = 0.004-0.09), DXS365 (Zmax = 24.5 at theta = 0.008, CI = 0.001-0.04). Key recombinants placed RS between DXS43 distally and DXS999 proximally. Multipoint linkage analysis gave odds of 344:1 in favour of this location for RS and supported the map Xpter-(DXS207, DXS1053)-DXS43-1 cM-RS-1 cM-DXS999-DXS443-DXS365-DXS1052-Xcen.
X连锁视网膜劈裂症（RS）由于黄斑区的放射状囊性改变，导致患病男性视力不佳。利用Xp22区域的标记物，对16个患有X连锁视网膜劈裂症的英国家庭进行了遗传连锁分析。确认了RS基因座与标记物DXS207（重组率θ = 0.03时，最大优势对数Zmax = 17.9；θ的置信区间为0.007 - 0.09）、DXS1053（θ = 0.01时，Zmax = 18.0，CI = 0.001 - 0.06）、DXS43（θ = 0.03时，Zmax = 12.9，CI = 0.004 - 0.09）、DXS1195（θ = 0.00时，Zmax = 6.4）、DXS418（θ = 0.00时，Zmax = 8.2）、DXS999（θ = 0.01时，Zmax = 21.2，CI = 0.001 - 0.05）、DXS443（θ = 0.03时，Zmax = 14.2，CI = 0.004 - 0.09）、DXS365（θ = 0.008时，Zmax = 24.5，CI = 0.001 - 0.04）之间存在连锁关系。关键重组体将RS定位在远端的DXS43和近端的DXS999之间。多点连锁分析得出支持RS位于该位置的优势比为344:1，并支持图谱Xpter - (DXS207, DXS1053) - DXS43 - 1厘摩 - RS - 1厘摩 - DXS999 - DXS443 - DXS365 - DXS1052 - Xcen。
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