我国睑裂狭小综合征患者FOXL2基因突变研究  

Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

作　　者：叶娟[1] 石鑫[1] 贺金晶[1] 张惠娜[1] 

机构地区：[1]浙江大学医学院附属第二医院眼科中心,杭州310009

出　　处：《中华眼科杂志》2011年第11期1007-1011,共5页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金面上项目（81070756）;浙江省自然科学基金（Y2080396）;浙江省科技厅国际合作研究重点项目（2008C14099）

摘　　要：目的明确我国睑裂狭小综合征（BPES）患者Forkhead box L2（rOXL2）基因突变位点及突变类型，分析突变引起的蛋白质结构变化，以提高疾病的诊断准确率。方法实验研究。2008年1月至2009年12月在浙江大学医学院附属第二医院眼科中心收集到5例我国BPES患者，采集患者外周静脉血，提取基因组脱氧核糖核酸（DNA），应用聚合酶链反应和DNA测序技术检测FOXL2基因编码序列，并与患者家属及110名正常人相应序列进行比对。结果两个家系中BPES患者均检测到c．672_701dup30（P．Ala224_Ala234dup）杂合突变，3例散发患者分别检测到c．655C〉T（P．Q219X）、c．370A〉G（P．K124E）和c．858_874dup17（P．P292fs）杂合突变。结论在BPES患者中发现FOXL2基因c．370A〉G（P．K124E）和c_858—874dup17（P．P292N）两种新的杂合突变，扩展了国内外FOXL2基因突变谱，在两个家系中均发现c．672_701dup30（P．Ala224_Ala234dup）杂合突变，再次证明这一位点为国内BPES患者FOXL2基因突变热点。Objective To analyse mutational points of FOXL2 gene in 5 Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome （ BPES ） and to predict structural changes of the mutational FOXL2 protein. So as to improve the diagnostic accuracy of this kind of disease. Methods Five milliliter samples of peripheral venous blood were collected from the patients. Genomic DNA was extracted from each sample. Three pairs of PCR primers which were used to amplify the exon of FOXL2 gene were designed. After PCR process,the products were analyzed by direct genomic sequencing. Results The same c. 672_701dup30（p. Ala224_Ala234dup） heterozygous mutation was detected from two different families. c. 655C 〉 T （ p. Q219X ）, c. 370 A 〉 G （ p. K124E ） and c. 858 _ 874dup17 （ p. P292fs ） heterozygous mutations were detected from the other 3 sporadic cases. Conclusions Two novel heterozygous mutations in FOXL2（ c. 370A 〉 G, c. 858_874dup17）which were detected from Chinese BPES patients expand the worldwide mutational spectrum of FOXL2 gene. Being detected from two different families we confirm c. 672_701dup30 heterozygous mutation as a mutation hotspot in China.

关 键 词：睑裂狭小 叉头转录因子类 突变 

分 类 号：R777.1[医药卫生—眼科]