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无脉络膜眼(Mck30310)是一种十分罕见的X连锁的遗传性视网膜营养不良症,引起夜盲,进行性周边视野消失,最终导致中央视野消失.但是该病的致病基因在X染色体上的位置及其缺陷的本质尚不清楚.经典的连锁分析已失败.但最近限制性片段长度多态(RFLP)技术的发展大大地提高了基因制图的连锁分析法的能力.本文应用X染色体上的RFLP,通过对患有该病家系的连锁分析,确定了无脉络膜眼基因在X染色体上.研究结果表明,位于Xq13-21的一个多态性片段的位点DXYS1与无脉络膜眼基因
Choroidal ophthalmia (Mck30310) is a very rare form of X-linked hereditary retinal dystrophy that causes night blindness and disappearance of progressive peripheral vision that eventually leads to disappearance of the central visual field. However, the location of the disease-causing genes on the X chromosome And the nature of its defects is not clear.Classical linkage analysis has failed.However, the recent development of RFLP technology has greatly enhanced the ability of linkage mapping of gene mapping.In this paper, the RFLP , A choroid eye gene was identified on the X chromosome by linkage analysis of the pedigree with this disease.The results showed that the locus of a polymorphic fragment Xq13-21 DXYS1 with no choroidal eye genes