【摘要】 目的　阐明先天性视网膜劈裂症 (X- linked juvenile retinoschisis,RS or XL RS)的发病机理 ,为建立基因诊断的方法提供理论依据。方法　采用聚合酶链反应 -单链构象多态性分析 ,对 6个独立 XL RS病例进行了 XL RS1基因突变筛选 ,并对发现的异常泳动带进行 DNA测序 ,以明确突变位点 ;对发现的缺失突变进行 Southern印迹证实。结果　在 5个病例中发现基因突变。在家系 1中发现缺失突变 ,家系中的4个患者均缺失了 1、2和 3外显子。在外显子 4上检出 3种异常泳动带 ,分别为 3种突变 :Glu72 L ys、Glu72 Gln、Gly70 Ser。结论　XL RS1基因突变是导致中国人患 RS的主要原因。本研究结果可直接应用于RS的遗传咨询和产前基因诊断。更多还原

【Abstract】 Objective To elucidate the pathogeny of X linked retinoschisis(XLRS) and evaluate its value in direct gene diagnosis. Methods Polymerase chain reaction single strand conformation polymorphism(PCR SSCP) assay was performed to examine exons of XLRS1 gene in six unrelated retinoschisis cases (3 families and 3 sporadic cases), and fragments with a mobility shift were sequenced to identify the mutation. The deletion mutations were further identified by Southern blotting analysis. Results Three deletions that eliminate exon 1, exon 2, and exon 3 were found in 4 patients of one family. There was severe effect of the mutation in the coding region. Three kinds of mutations were found in exon 4:Glu72Lys, Glu72Gln, Gly70Ser. Conclusion XLRS is caused by mutation of the XLRS1 gene. The finding helps establish a fast and effective direct diagnosis.更多还原