睑裂狭小综合征一家系的FOXL2基因突变研究

目的确定一个常染色体显性遗传的睑裂狭小综合征（BPES）家系的致病基因及其突变位点和类型。方法应用聚合酶链反应和直接测序技术,对来自同一家系的4例BPES患者及家系中6例正常人和50例正常对照者的外周血DNA进行分子遗传学分析,筛查FOXL2基因的外显子序列。结果来自同一家系的4例BPES患者均发现有FOXL2基因892C〉T的改变,为无义突变,而家系中6例正常人及50例正常对照者的FOXL2基因中均未发现突变。结论FOXL2基因的一种已知突变可能是该BPES家系的重要致病因素。

The study on FOXL2 gene mutation in a pedigree affected by blepharophimosis ptosis epicanthus inversus syndrome

Objective To detect the mutation of FOXL2 gene in a Chinese pedigree affected by autosomal dominant blepharophimosis-ptosis-epicanthus-inversus syndrome（BPES）.MethodsFour patients and 6 normal persons in the same pedigee suffering BPES were studied,and other 50 normal individuals were as contrast.The periphery blood was collected for detection of DNA.The exons of the FOXL2 gene were amplified by polymerase chain reaction and analyzed by directly genomic sequencing.ResultsA known mutation C→892C 〉 T at nucleotides in FOXL2 gene was found in the four affected patients.However,no mutation was found in any of the health members in this family or 50 normal individuals. ConclusionFOXL2 may be an important pathogenesis for BPES in this Chinese family.