本文選題：X連鎖遺傳性視網(wǎng)膜劈裂癥 + RS基因�。� 參考：《眼科》2015年02期

【摘要】：目的通過對國人X連鎖遺傳性視網(wǎng)膜劈裂癥(XLRS)患者RS1基因突變分析,描述RS1基因突變特點和XLRS表型特征。設(shè)計回顧性病例系列。研究對象本實驗室收集XLRS患者27例,其中12例家族史明確,15例為散發(fā)。方法利用PCR擴增DNA直接測序方法檢測27例患者RS1基因6個編碼外顯子。并對所有患者行詳細的眼科檢查,包括矯正視力、裂隙燈顯微鏡查眼前節(jié)、散瞳后直接眼底鏡查眼底及眼底照相、相干光斷層掃描(OCT)和視網(wǎng)膜電圖(ERG)。主要指標RS1基因基因突變,發(fā)病年齡,視力,眼底表現(xiàn)。結(jié)果在27例患者中檢測到27種RS1基因突變,其中4種為新發(fā)現(xiàn)突變,22種位于第4-6外顯子(85.2%),即RS1蛋白的盤狀結(jié)構(gòu)域。27種突變包括15種錯義突變(55.6%),4種無義突變(14.8%),4種缺失或插入(14.8%),2種剪接位點改變(7.4%),2種大片段缺失(7.4%)。27例患者均為男性,平均發(fā)病年齡(4.70±1.25)歲(0~34歲)。平均最佳矯正視力(0.22±0.28)(手動~1.0)。27例患者(54眼)中,40眼黃斑劈裂(74.1%),7眼僅有周邊視網(wǎng)膜劈裂,5眼黃斑萎縮(其中3眼合并周邊視網(wǎng)膜劈裂)。結(jié)論本研究結(jié)果擴大了RS1基因突變譜,第4-6外顯子區(qū)域是XLRS患者RS1基因突變的熱突變區(qū)域,對懷疑為XRLS患者應(yīng)先進行RS1基因第4-6外顯子區(qū)域測序。
[Abstract]:Objective to analyze the mutation of RS1 gene in Chinese patients with X-linked retinoschisis and to describe the characteristics of RS1 gene mutation and XLRS phenotype. Design retrospective case series. Participants 27 patients with XLRS were collected in our laboratory, of whom 12 had familial history and 15 were sporadic. Methods six exons of RS1 gene were detected by PCR amplification DNA direct sequencing in 27 patients. All patients were examined with detailed ophthalmic examination, including corrected visual acuity, slit lamp microscopy, fundus and fundus radiography after pupil dilation, coherence tomography (Oct) and electroretinogram (ERG). Main outcome measures mutation of RS1 gene, age of onset, visual acuity, fundus manifestation. Results 27 RS1 gene mutations were detected in 27 patients. Among them, 4 are newly discovered mutations 22 are located in exon 4-6 85.2G, I. e., the disk-like domain of RS1 protein. 27 mutations include 15 missense mutations, four nonsense mutations, four deletions, or two splicing site changes, 7.4B and 7.4B, respectively. All the 27 patients were male. The mean age of onset was 4.70 鹵1.25 years old and 34 years old. The mean best corrected visual acuity (BCVA) was 0.22 鹵0.28 (54 eyes of 27 patients) with macular splitting in 40 eyes (74.1 eyes) and only 5 eyes of macular atrophy (3 eyes with peripheral retinal cleavage) in 7 eyes. Conclusion the result of this study expands the RS1 gene mutation spectrum, the exon 4-6 region is the heat mutation region of RS1 gene mutation in XLRS patients, and the exon 4-6 region of RS1 gene should be sequenced first in patients suspected to be XRLS.
【作者單位】： 首都醫(yī)科大學附屬北京同仁醫(yī)院;北京同仁眼科中心;北京市眼科研究所
【基金】：北京市衛(wèi)生系統(tǒng)高層次衛(wèi)生技術(shù)人才項目(2013-2-021)
【分類號】：R774.12

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