本文關(guān)鍵詞：兩個(gè)X連鎖遺傳先天性特發(fā)性眼球震顫家系FRMD7基因突變的研究　出處：《眼科新進(jìn)展》2016年07期 　論文類型：期刊論文

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【摘要】：目的研究?jī)蓚�(gè)X連鎖遺傳先天性特發(fā)性眼球震顫(congenital idiopathic nystagmus,CIN)家系的致病基因突變。方法在獲取知情同意后,對(duì)兩個(gè)家系進(jìn)行病史采集及臨床檢查以確定其遺傳表型;通過(guò)系譜分析,確定遺傳模式;篩選致病基因進(jìn)行直接測(cè)序,分析發(fā)現(xiàn)致病突變。結(jié)果兩個(gè)家系均為X連鎖遺傳,其中CIN-01家系所有患者均攜帶錯(cuò)義突變c.685CT,位于FRMD7基因外顯子8上,該突變可導(dǎo)致FRMD7編碼的精氨酸被半胱氨酸替換(p.R229C);CIN-02家系所有患者及攜帶者均攜帶錯(cuò)義突變c.887GC,位于FRMD7基因外顯子9上,該突變使FRMD7蛋白第296位的甘氨酸被替換為精氨酸(p.G296R)。結(jié)論 FRMD7基因c.685CT及c.887GC分別是引起CIN-01家系及CIN-02家系致病的主要原因。
[Abstract]:Objective to study the genetic mutation of two X linked genetic congenital idiopathic nystagmus (CIN) families (congenital idiopathic nystagmus). Methods after obtaining informed consent, two families were collected and examined clinically to identify their phenotypes. Genetic patterns were determined through pedigree analysis, and the pathogenic genes were screened for direct sequencing, and the mutation was identified. The two families were X genetic linkage, in which all patients CIN-01 families were carrying missense mutation c.685CT, located in exon 8 of FRMD7 gene, the mutation can cause FRMD7 encoding arginine replaced by cysteine (p.R229C); CIN-02 family of all patients and carriers were carrying missense mutations in c.887GC, located in the the exon 9 of FRMD7 gene, the mutant FRMD7 protein 296th glycine is replaced by arginine (p.G296R). Conclusion c.685CT and c.887GC of FRMD7 gene are the main causes of the pathogenesis of CIN-01 family and CIN-02 family respectively.
【作者單位】： 天津醫(yī)科大學(xué)眼科臨床學(xué)院;天津市眼科醫(yī)院;首都醫(yī)科大學(xué)附屬北京兒童醫(yī)院;
【基金】：國(guó)家自然科學(xué)基金資助(編號(hào):30940081) 天津市衛(wèi)生局科技基金(編號(hào):09KR09) 天津市應(yīng)用基礎(chǔ)與前沿技術(shù)研究計(jì)劃(編號(hào):15JCQNJC45000)~~
【分類號(hào)】：R777.46
【正文快照】： l l l l 李寧東出生,山西人,在讀碩士研究生。E-mail:wuxiaofei1811@163.com;OR-CID:0000-0003-0599-7922About WU Xiao-Fei:Female,born inSeptember,1988.Postgraduatestudent.E-mail:wuxiaofei1811@163.com;ORCID:0000-0003-0599-7922修回日期:2016-04-05Accepted date:Apr

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