摘要
目的对我国一个先天性特发性眼球震颤(congenital idiopathic nystagmus,CIN)家系进行基因突变筛查。方法在获取知情同意后,对该家系成员进行病史采集及眼科检查。采集该CIN家系成员及200名正常对照者的外周静脉血各5 m L,并提取基因组DNA。对FRMD7基因进行引物的设计与合成,使用聚合酶链式反应技术对FRMD7基因的所有编码区序列进行扩增,扩增产物直接测序,寻找突变位点。结果在该CIN家系发现FRMD7基因上c.1003C>T突变,该突变为无义突变(p.R335X)。家系中5例患者均为男性且为该突变的纯合子,3位女性携带者为该突变的杂合子,其余成员和200名正常对照者均未发现此突变。结论该CIN家系致病突变为FRMD7基因上c.1003C>T p.R335X突变。
Objective To describe the mutation of FERM domain-containing 7 （FRMD7） gene in a four-generation Chinese family with X-linked idiopathic congenital nystagmus （ICN）. Methods Routine medical examination and ophthalmologic evaluation were performed on all available family members after obtaining informed consent. Genomic DNA extracted from the peripheral blood leukocytes in CIN family and 200 normal cases. All coding exons of FRMD7 gene were amplified by PCR. Mutations in FRMD7 were testified by sequencing PCR products. Results Sequencing identified a previously reported nonsense mutation （ c. 1003C 〉 T） in FRMD7 gene in all affected members and 3 asymptomatic female members. This mutation resulted in a premature stop codon （p. R335X） due to a single nucleotide substitution of C→T at position c. 1003 in this four-generation Chinese family. The 3 affected males were homozygous in these mutations, while female carriers were heterozygous. Conclusion A mutation （c. 1003C 〉T p. R335X） of FRMD7 exists in this Chinese family with CIN.
出处
《眼科新进展》
CAS
北大核心
2016年第9期829-831,共3页
Recent Advances in Ophthalmology
基金
国家“973”项目基金资助(编号:2015CB964601)
国家自然科学基金资助(编号:81371062)~~
