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首页> 外文期刊>Molecular vision >Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
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Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

机译：应用定量实时荧光定量PCR对中国睑缘下垂-上睑下垂-逆向综合征患者进行FOXL2基因的遗传分析

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Purpose: The purpose of this study was to identify the mutation(s) or deletion(s) of the forkhead box protein L2 (FOXL2) gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods: Genomic DNA extracted from peripheral blood was collected from two Chinese families and from one sporadic case. PCR direct sequencing and quantitative real-time PCR-based copy number screening for the whole exon of FOXL2 were performed. Results: Direct sequencing revealed an indel mutation c.50C→TA in the sporadic case which resulted in a frameshift generating 78 novel amino acids and terminating prematurely at codon 95. Deletions in the FOXL2 gene were confirmed by quantitative real-time PCR (q-real-time PCR) in two families in which intragenic mutations were excluded by direct sequencing. These changes containing deletions and a de novo mutation were not detected either in the non-carrier relatives or in 100 normal controls. Conclusions: This study identified two deletions and a de novo mutation in the FOXL2 gene in Chinese BPES patients. This is the first study to report FOXL2 gene deletions detected by q-real-time PCR in this ethnic group. This technique enriches the diagnostic methods of molecular genetics in BPES patients. The de novo mutation expands the mutation spectrum of FOXL2.
机译：目的：本研究的目的是鉴定中国睑缘下垂-上睑下垂-逆视综合征（BPES）患者叉头盒蛋白L2（FOXL2）基因的突变或缺失。方法：从两个中国家庭和一个散发病例中收集从外周血中提取的基因组DNA。对FOXL2的整个外显子进行PCR直接测序和基于定量实时PCR的拷贝数筛选。结果：直接测序显示，在零星情况下，存在插入缺失突变c.50C→TA，导致移码产生78个新氨基酸并在95位密码子处提前终止。FOXL2基因的缺失已通过实时定量PCR（q-实时PCR）的两个家族，其中直接测序排除了基因内突变。在非携带者的亲戚或100个正常对照中均未检测到这些包含缺失和从头突变的变化。结论：本研究在中国BPES患者中发现了FOXL2基因的两个缺失和一个从头突变。这是第一个报告通过q-实时PCR检测到的FOXL2基因缺失的研究。该技术丰富了BPES患者的分子遗传学诊断方法。从头突变扩大了FOXL2的突变谱。

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