睑裂狭小综合征Ⅱ型一家系未检测到FOXL2基因突变

Lack of association between FOXL2 gene mutation and pedigree affected by blepharophimosis ptosis epicanthus inversus syndrome type Ⅱ

目的对一个常染色体显性遗传的睑裂狭小综合征Ⅱ型家系FOXL2基因突变进行研究。方法采集一个中国人睑裂狭小综合征Ⅱ型家系的4例患者及家系中5例健康人和30例正常对照者外周静脉血样,提取基因组DNA,参考FOXL2基因序列,设计5对引物,应用PCR和DNA测序技术对FOXI2基因的编码区和启动子区进行扩增和突变检查。结果成功提取了该家系中4例患者和5例健康人与30名正常对照者外周血基因组DNA,分段扩增出了FOXL2基因的编码区及启动子区,但5段测序结果显示该家系中4例患者和5例健康人与30名正常对照者的FOXL2基因测序结果相同。该家系患者FOXL2基因编码区及启动子区均未发现突变。结论该家系睑裂狭小综合征的致病因素不是由FOXL2基因突变引起的。

Objective To detect the mutation of FOXL2 gene in a Chinese pedigree affected by autosomal dominant blepharophimosis ptosis epicanthus inversus syn- drome （BPES） type II. Methods The peripheral blood samples 2 mL, with EDTA as decoagulant, from 4 patients and 5 healthy people in a Chinese family affected with BPES type II and other 30 normal individuals were collected. The genomic DNA from peripheral blood leukocytes was extracted. Five pairs of primers were designed by the Oligo5 according to the sequence of the FOXL2 gene （ Gene ID： 658 ）. The coding region and the putative core promoter of the FOXI2 gene were amplified by polymerase chain reaction（ PCR）, and mutation was analyzed by sequencing DNA fragments. Results The genomic DNA was extracted successfully from peripheral blood leukocytes from the 4 patients and 5 healthy people in the family and 30 normal individuals. The coding region and the core promoter of the FOXI2 gene were amplified. But sequence analysis of 5 DNA fragments showed that sequences were same and no mutation was found in any of the members in this family or 30 normal individuals. Conclusion The pathogenesis for BPES type II in this Chinese family is not mutation of the FOXI2 gene.