常染色体显性遗传眼球震颤家系的临床表型及致病基因的研究

发布时间：2018-07-24 14:26

【摘要】：目的研究1个中国人常染色体显性遗传性眼球震颤家系的临床特点,并通过候选基因直接测序的方法对该家系的致病基因及发病机制进行研究。方法选择1个先天性眼球震颤家系,对家系所有成员进行全身检查及视力、眼位、眼球运动、眼球震颤中间带、验光等眼科的相关检查后,从家系中每一代各选1例患者(包括先证者)及正常人,进行候选基因FRMD7、GPR143与PAX6基因的外显子测序。结果家系患者的眼球震颤为水平冲动型,并且具有中间带。除了先证者有部分眼组织缺损及小眼球等异常外,其余患者的眼前节均未见明显发育异常。家系患者PAX6基因第7外显子的第382碱基发生了杂合突变(c.C382T),从而引起了氨基酸的改变(p.R128C),该突变可能影响了PAX6蛋白与其调控的下游基因的调控序列的结合,进而导致PAX6基因功能异常,影响眼部发育。结论该常染色体显性遗传性眼球震颤家系的致病基因为PAX6基因。
[Abstract]:Objective to study the clinical characteristics of 1 Chinese people with autosomal dominant nystagmus, and to study the pathogenetic genes and pathogenesis of the family by direct sequencing of candidate genes. Methods 1 congenital nystagmus families were selected, and all the members of the family were examined and eyesight, eye position, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye movement, eye 1 patients (including the precursor) and the normal person were selected from each generation of the family. The exon of the candidate gene FRMD7, GPR143 and PAX6 gene was sequenced. The results showed that the nystagmus of the family was horizontal impulsive and had a middle band. There is no obvious dysplasia in the eyes of the other patients. The 382nd base of the PAX6 gene of the PAX6 gene of the family is heterozygous (c.C382T), which causes the change of the amino acid (p.R128C). This mutation may affect the combination of the regulation sequence of the PAX6 protein and its regulated downstream genes, leading to PAX 6 the abnormal gene function affects the development of the eyes. Conclusion the PAX6 gene is the pathogenic gene of the autosomal dominant nystagmus family.
【作者单位】：北京大学第三医院眼科;
【基金】：国家自然科学基金资助(编号:81300789)~~
【分类号】：R777.46

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