小睑裂综合征家系的FOXL2基因突变研究

摘要

Objective To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES). Methods PCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.Results A novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins. Conclusion These findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported.%目的对小睑裂综合征家系患者的 FOXL2基因突变进行研究,寻找突变位点.方法设计 FOXL2基因特异性引物进行PCR扩增,然后测序,并对突变位点进行克隆后测序.结果在一个类型尚不明确的家系中2例患者 FOXL2基因PCR扩增后测序发现951-953(delC),克隆后多克隆位点测序亦证实951-953(delC).所有正常人均未发现突变.951-953(delC)引起238位S后出现移码突变,终止密码子提前,蛋白截短.结论 951-953(delC)致蛋白截短,可能是导致小睑裂综合征的原因.经查新验证,951-953(delC)是一个新的突变位点,国内外未见报道.