中国先天性眼球震颤家系与FRMD7基因相关性研究

发布时间：2018-03-08 22:00

本文选题：先天性眼球震颤　切入点：FRMD7基因　出处：《哈尔滨医科大学》2012年硕士论文　论文类型：学位论文

【摘要】：目的对先天性眼球震颤(Congenital nystagmus，CN)家系中患者进行分子遗传分析，探讨我国东北地区X连锁遗传的先天性眼球震颤家系患者与FRMD7基因之间的关系。方法对一个先天性眼球震颤家系中参与研究成员进行全面的眼部检查，采集该家系的2例患者和2名健康成员外周静脉血各5ml，提取外周血白细胞中的DNA；合成FRMD7基因的特异性引物，利用聚合酶链式反应(polymerase chainreaction, PCR)扩增FRMD7基因；将PCR产物进行纯化并双向测序分析；利用Chromas (version1.0)软件对测序结果进行分析；利用Human Splicing Finder(HSF)Version2.4.1软件对剪切突变结果进行预测分析。并选取50名正常女性个体作为对照样本。结果本研究中家系患者均表现为单纯眼球水平震颤，且发病在出生后或出生几个月后。检测结果均发现家系中参与本研究的患者均出现了FRMD7基因第2内含子和第3外显子交界处的剪切突变（c.163 1GT）。家系中正常成员和检测的正常对照个体中均未发现该突变。根据剪切突变利用预测软件（HSF，http://www.umd.be/HSF/HSF.html）分析，结果显示该突变后FRMD7基因改变功能域位于FRMD7基因蛋白氨基末端高度保守区域。结论该家系先天性眼球震颤是X连锁的显性遗传，FRMD7基因是该家系的致病基因，FRMD7基因的新突变（c.163 1GT）是该家系的致病突变。该结果丰富了FRMD7基因的突变谱。
[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.
【学位授予单位】：哈尔滨医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R777.46

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