本文關(guān)鍵詞： 眼白化病 GPRl基因 新突變　出處：《眼科》2017年04期 　論文類型：期刊論文

【摘要】：目的篩查中國(guó)漢族眼白化病I型(ocular albinism type1,OA1)患者的GPR143(G蛋白偶聯(lián)143受體)基因,了解中國(guó)人眼白化病患者基因突變方式和突變位點(diǎn)的分布特征。設(shè)計(jì)實(shí)驗(yàn)研究。研究對(duì)象12例臨床診斷為眼白化病I型的患者及120名正常人。方法外周血提取基因組DNA,利用DNA擴(kuò)增產(chǎn)物直接Sanger測(cè)序方法,篩查GPR143基因編碼區(qū)和剪接位點(diǎn)突變。對(duì)于新發(fā)現(xiàn)的變異,在120例正常人中篩查同一位點(diǎn)以排除基因多態(tài)性。主要指標(biāo)基因序列變異分析。結(jié)果 12例患者均檢測(cè)出GPR143基因突變,共檢出10種突變方式,其中7種為未見文獻(xiàn)報(bào)道的新突變,包括錯(cuò)義突變c.695CT,c.688AG,無義突變c.485GA,剪切位點(diǎn)突變c.250+1GA,移碼突變c.415del G、c.560dup G和c.208_218del11。結(jié)論本研究結(jié)果豐富了GPR143基因突變譜,為中國(guó)眼白化病患者的基因診斷和遺傳咨詢提供了重要信息。
[Abstract]:Objective to screen the China Han ocular albinism type I (ocular albinism Type1, OA1) with GPR143 (G protein coupled receptor 143) gene, gene Chinese human understanding Albino Mutation and distribution of mutations. The experimental research design. Research object for the clinical diagnosis of 12 cases of ocular albinism type I patients and 120 healthy. Methods peripheral blood genomic DNA extraction, amplification products direct Sanger sequencing method by DNA screening of GPR143 gene encoding region and splice site mutations. The variation in the newly discovered, in 120 cases of normal people in the same locus screening to exclude gene polymorphism. Analysis of the main indicators of gene mutation. Results 12 cases were detected GPR143 gene mutations were detected in 10 kinds of mutations, including 7 novel mutations were reported in literature, including c.695CT c.688AG, missense mutation, nonsense mutation c.485GA, splice site mutation c.250+1GA, The results of frameshift mutation c.415del G, c.560dup G and c.208_218del11. concluded that the results of this study enriched GPR143 gene mutation spectrum, and provided important information for gene diagnosis and genetic counseling of Chinese patients with ocular albinism.

【作者單位】： 首都醫(yī)科大學(xué)附屬北京同仁醫(yī)院皮膚科;首都醫(yī)科大學(xué)附屬北京兒童醫(yī)院眼科;
【基金】：國(guó)家自然科學(xué)基金(81472871) 北京市衛(wèi)生系統(tǒng)高層次衛(wèi)生技術(shù)人才培養(yǎng)項(xiàng)目資助(2005-3-011)
【分類號(hào)】：R596

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1 金怡軒;劉斐;;眼白化�、裥图蚁抵虏』騁PR143新突變[J];中國(guó)斜視與小兒眼科雜志;2014年04期

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本文編號(hào)：1518595