Alitalo T, Kärnä J, Forsius H, de la Chapelle A
Clin Genet. 1987 Sep;32(3):192-5. doi: 10.1111/j.1399-0004.1987.tb03353.x.
A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. Close linkage of the disease locus with markers DXS41 (probe p99-6) and DXS16 (pXUT23) was found, confirming the location of the RS gene on the distal short arm of the X chromosome. Lod scores for linkage with DXS85 (probe 782) were negative.
对9个家庭中24名患有X连锁隐性视网膜劈裂症（RS）的男性进行了连锁研究，使用了来自Xp远端的3个多态性DNA探针。发现疾病基因座与标记DXS41（探针p99 - 6）和DXS16（pXUT23）紧密连锁，证实了RS基因位于X染色体短臂远端。与DXS85（探针782）连锁的Lod值为阴性。
