[摘要]目的 应用实时定量PCR技术鉴定先天性小睑裂综合征(BPES)患者中FOXL2基因的突变和(或)缺失。方法 于2017年8月收集黑龙江省1个BPES患病家系，采集外周血提取基因组DNA，用PCR直接测序法和实时定量PCR法筛查FOXL2基因的全部外显子。结果 在此例患病家系中，用PCR直接测序法排除了基因内突变，用实时定量PCR方法确定了FOXL2基因全缺失。这些变异在未患病亲属和50名正常人中并未被检测到。结论 本研究是应用实时定量PCR技术检测中国BPES患者FOXL2基因缺失的报道，这项技术丰富了BPES患者的分子遗传学诊断方法。

    [关键词]小睑裂综合征;叉头蛋白L2;实时定量PCR;缺失;突变

    [中图分类号] R777.1 [文献标识码] A [文章编号] 1674-4721(2019)8(b)-0079-04

    [Abstract] Objective To identify the mutation or deletion of the FOXL2 gene in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) using quantitative real-time PCR technology. Methods A family with BPES was collected in Heilongjiang Province in August 2017. Genomic DNA extracted from peripheral blood was collected from the family. PCR direct sequencing and quantitative real-time PCR sequencing for the whole exon of the FOXL2 gene were performed. Results In this family ......