小睑裂综合征家系FOXL2基因的突变研究

目的对一个常染色体显性遗传的小睑裂综合征家系4代12例患者,及家系中12例正常成员和80例正常对照的FOXL2基因进行研究。方法设计合成FOXL2基因特异引物应用聚合酶链反应(PCR)扩增FOXL2基因,PCR产物直接测序。结果该家系所有患者的FOXL2基因892C>T,为无义突变。在正常人的FOXL2基因中未发现突变。结论FOXL2基因的突变可能是该家系中小睑裂综合征重要的致病因素。

The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Objective We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene ,FOXL2,the group also have 12 normal members in this family and other 80 normal individuals for contrast. Methods The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing. Results A 892C>T at nucleotides in FOXL2 was found in the twelve affected patients. No mutations was found in any of the health members in the family. Conclusions FOXL2 may be a important pathogenesis for the disease in this Chinese family.;