实时定量PCR在先天性小睑裂综合征患者FOXL2基因检测中的应用  

Application of quantitative real-time PCR in the detection of FOXL2 gene in patients with blepharophimosis-ptosis-epicanthus inversus syndrome

作　　者：陈丽娟 王中英 李思佳 胡姗姗 CHEN Li-juan;WANG Zhong-ying;LI Si-jia;HU Shan-shan(Department of Ophthalmology,Hongqi Hospital Affiliated to Mudanjiang Medical College,Heilongjiang Province,Mudanjiang 157000,China)

机构地区：[1]牡丹江医学院附属红旗医院眼科

出　　处：《中国当代医药》2019年第23期79-82,共4页China Modern Medicine

基　　金：黑龙江省教育厅创新人才培养计划(UNPYSCT-2017171)

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。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,deletion of the FOXL2 gene was confirmed by the quantitative real-time PCR technique,which intragenic mutations were excluded by PCR direct sequencing.This change was not detected either in the non-carrier relatives or in 50 normal controls.Conclusion This is the study to report FOXL2 gene deletion detected by quantitative real-time PCR in Chinese BPES patients.This technique enriches the diagnostic methods of molecular genetics in BPES patients.

关 键 词：小睑裂综合征 叉头蛋白L2 实时定量PCR 缺失 突变 

分 类 号：R777.1[医药卫生—眼科]