中华眼底病杂志
中華眼底病雜誌
중화안저병잡지
CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
2011年
5期
409-413
,共5页
余洪华%李涛%雷蕾%丁小燕%李加青%胡洁%朱晓波%罗燕%李士清%胡安娣娜%唐仕波
餘洪華%李濤%雷蕾%丁小燕%李加青%鬍潔%硃曉波%囉燕%李士清%鬍安娣娜%唐仕波
여홍화%리도%뢰뢰%정소연%리가청%호길%주효파%라연%리사청%호안제나%당사파
视网膜劈裂症/先天性%视网膜劈裂症/遗传学%基因%突变
視網膜劈裂癥/先天性%視網膜劈裂癥/遺傳學%基因%突變
시망막벽렬증/선천성%시망막벽렬증/유전학%기인%돌변
Retinoschisis/congenital%Retinoschisis/genetics%Genes%Mutation
目的 观察先天性视网膜劈裂(XLRS)患者的基因突变型及其与临床表型的相关性。方法 33例XLRS患者、26名女性携带者和100名无眼疾的健康正常对照人群纳入研究。33例患者来自8个家系18例；散发病例15例。均为男性，双眼发病。66只眼中，黄斑中心凹微囊样劈裂49只眼，占74.2％；黄斑部层状劈裂43只眼，占65.2％；视网膜周边部劈裂32只眼，占48.5％。视网膜脱离17只眼，占25.8％；合并玻璃体积血9只眼，占13.6％。行视网膜电图(ERG)检查的42只眼均表现为不同程度b波振幅降低。采用聚合酶链反应(PCR)方法，对视网膜劈裂基因（RSl基因）的6个外显子各片段进行扩增后直接DNA测序，明确基因突变位点和突变类型。同时对基因型与临床表型间进行相关性分析。结果 DNA测序发现19种不同的RS1基因突变。其中，新发现6种，分别是p.Gly70Cys、p.Trp112Arg、p.Arg156Trp、p.His207ProfsX56、p.Arg209AlafsX28、p.Cys223Tyr。正常对照人群未检测到基因突变。相关性分析结果显示，基因型与临床表型间无相关性（X2=0.731，3.438，0.820，3.208，1.992; P＞0.05）。结论 RS1基因突变是导致XLRS的主要原因；RS1基因突变型与临床表型间无相关性，不能通过基因型来预测疾病的预后。
目的 觀察先天性視網膜劈裂(XLRS)患者的基因突變型及其與臨床錶型的相關性。方法 33例XLRS患者、26名女性攜帶者和100名無眼疾的健康正常對照人群納入研究。33例患者來自8箇傢繫18例；散髮病例15例。均為男性，雙眼髮病。66隻眼中，黃斑中心凹微囊樣劈裂49隻眼，佔74.2％；黃斑部層狀劈裂43隻眼，佔65.2％；視網膜週邊部劈裂32隻眼，佔48.5％。視網膜脫離17隻眼，佔25.8％；閤併玻璃體積血9隻眼，佔13.6％。行視網膜電圖(ERG)檢查的42隻眼均錶現為不同程度b波振幅降低。採用聚閤酶鏈反應(PCR)方法，對視網膜劈裂基因（RSl基因）的6箇外顯子各片段進行擴增後直接DNA測序，明確基因突變位點和突變類型。同時對基因型與臨床錶型間進行相關性分析。結果 DNA測序髮現19種不同的RS1基因突變。其中，新髮現6種，分彆是p.Gly70Cys、p.Trp112Arg、p.Arg156Trp、p.His207ProfsX56、p.Arg209AlafsX28、p.Cys223Tyr。正常對照人群未檢測到基因突變。相關性分析結果顯示，基因型與臨床錶型間無相關性（X2=0.731，3.438，0.820，3.208，1.992; P＞0.05）。結論 RS1基因突變是導緻XLRS的主要原因；RS1基因突變型與臨床錶型間無相關性，不能通過基因型來預測疾病的預後。
목적 관찰선천성시망막벽렬(XLRS)환자적기인돌변형급기여림상표형적상관성。방법 33례XLRS환자、26명녀성휴대자화100명무안질적건강정상대조인군납입연구。33례환자래자8개가계18례；산발병례15례。균위남성，쌍안발병。66지안중，황반중심요미낭양벽렬49지안，점74.2％；황반부층상벽렬43지안，점65.2％；시망막주변부벽렬32지안，점48.5％。시망막탈리17지안，점25.8％；합병파리체적혈9지안，점13.6％。행시망막전도(ERG)검사적42지안균표현위불동정도b파진폭강저。채용취합매련반응(PCR)방법，대시망막벽렬기인（RSl기인）적6개외현자각편단진행확증후직접DNA측서，명학기인돌변위점화돌변류형。동시대기인형여림상표형간진행상관성분석。결과 DNA측서발현19충불동적RS1기인돌변。기중，신발현6충，분별시p.Gly70Cys、p.Trp112Arg、p.Arg156Trp、p.His207ProfsX56、p.Arg209AlafsX28、p.Cys223Tyr。정상대조인군미검측도기인돌변。상관성분석결과현시，기인형여림상표형간무상관성（X2=0.731，3.438，0.820，3.208，1.992; P＞0.05）。결론 RS1기인돌변시도치XLRS적주요원인；RS1기인돌변형여림상표형간무상관성，불능통과기인형래예측질병적예후。
Objective To investigate the correlation between mutation genotypes and phenotypes of X-linked retinoschisis (XLRS) patients. Methods33 male XLRS patients, 26 female carriers and 100normal subjects were enrolled in this study. All 33 XLRS patients were bilateral, which included 18 patients from 8 families and 15 sporadic patients. Among 66 XLRS eyes, there are microcystis-like foveal splitting in 49 eyes (74.2％), lamellar macular splitting in 43 eyes (65.2％), peripheral splitting in 32 eyes (48. 5％),retinal detachment in 17 eyes (25.8％), and vitreous hemorrhage in 8 eyes (13. 6％). Electroretinogram was performed on 42 eyes which showed decreased amplitude of b-wave. The 6 exons of RS1 gene were amplified by polymerase chain reaction and then directly sequenced. The correlation analysis was performed between mutation genotypes and phenotypes. Results There were 19 RS1 gene mutations including 6 novel mutations (p. Gly70Cys, p. Trp112Arg, p. Arg156Trp, p. His207ProfsX56, p. Arg209AlafsX28, p.Cys223Tyr). There was no correlation between mutation genotypes and phenotypes (X2 =0. 731, 3. 438,0. 820, 3. 208, 1. 992; P＞0. 05). ConclusionsRS1 gene mutation is a major cause of XLRS. The RS1 mutation genotype is not correlated with phenotype, so that the prognosis cannot be predicted by the genotypes.
