本文選題：先天性眼球震顫　切入點：FRMD7基因　出處：《哈爾濱醫(yī)科大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的對先天性眼球震顫(Congenital nystagmus，CN)家系中患者進行分子遺傳分析，探討我國東北地區(qū)X連鎖遺傳的先天性眼球震顫家系患者與FRMD7基因之間的關(guān)系。 方法對一個先天性眼球震顫家系中參與研究成員進行全面的眼部檢查，采集該家系的2例患者和2名健康成員外周靜脈血各5ml，提取外周血白細胞中的DNA；合成FRMD7基因的特異性引物，利用聚合酶鏈?zhǔn)椒磻?yīng)(polymerase chainreaction, PCR)擴增FRMD7基因；將PCR產(chǎn)物進行純化并雙向測序分析；利用Chromas (version1.0)軟件對測序結(jié)果進行分析；利用Human Splicing Finder(HSF)Version2.4.1軟件對剪切突變結(jié)果進行預(yù)測分析。并選取50名正常女性個體作為對照樣本。 結(jié)果本研究中家系患者均表現(xiàn)為單純眼球水平震顫，且發(fā)病在出生后或出生幾個月后。檢測結(jié)果均發(fā)現(xiàn)家系中參與本研究的患者均出現(xiàn)了FRMD7基因第2內(nèi)含子和第3外顯子交界處的剪切突變（c.163 1GT）。家系中正常成員和檢測的正常對照個體中均未發(fā)現(xiàn)該突變。根據(jù)剪切突變利用預(yù)測軟件（HSF，http://www.umd.be/HSF/HSF.html）分析，結(jié)果顯示該突變后FRMD7基因改變功能域位于FRMD7基因蛋白氨基末端高度保守區(qū)域。 結(jié)論該家系先天性眼球震顫是X連鎖的顯性遺傳，F(xiàn)RMD7基因是該家系的致病基因，F(xiàn)RMD7基因的新突變（c.163 1GT）是該家系的致病突變。該結(jié)果豐富了FRMD7基因的突變譜。
[Abstract]:Objective to investigate the relationship between congenital nystagmus (FRMD7) gene and congenital nystagmus in a family with congenital nystagmus in Northeast China. Methods A complete ophthalmic examination was performed on a member of a pedigree with congenital nystagmus. The peripheral venous blood of 2 patients and 2 healthy members were collected to extract the DNA from peripheral white blood cells, and the specific primers of FRMD7 gene were synthesized, and the FRMD7 gene was amplified by polymerase chain reaction (PCR). The PCR products were purified and analyzed by bidirectional sequencing. The sequencing results were analyzed by Chromas version 1.0 software. The results of shearing mutation were predicted by Human Splicing Finder(HSF)Version2.4.1 software. 50 normal female individuals were selected as control samples. Results all the patients in this study showed simple horizontal nystagmus. The results showed that all the patients involved in this study had the shear mutation of intron 2 and exon 3 of FRMD7 gene at the junction of intron 2 and exon 3 of the FRMD7 gene. The mutation was not found in any of the normal individuals tested. According to the analysis of HSFhttp- / / www.umd.be-HSF- / HSF.html, according to the use of the prediction software HSFhttp- / / www.umd.be.HSF.html. The results showed that the FRMD7 gene domain was highly conserved at the amino end of the FRMD7 gene. Conclusion congenital nystagmus is a X-linked dominant genetic mutation of FRMD7 gene, which is a new mutation of FRMD7 gene and a new mutation of FRMD7 gene. This result enriches the mutation spectrum of FRMD7 gene.
【學(xué)位授予單位】：哈爾濱醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R777.46

【共引文獻】

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1 浦佳麗;先天性特異性眼球震顫相關(guān)FRMD7蛋白在神經(jīng)元發(fā)育中的作用及其信號通路研究[D];浙江大學(xué);2013年

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本文編號：1585703