安徽医科大学学报2012，Vol.47Issue(5)：527-530,4.
一先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征家系FOXL2基因的突变检测
The FOXL2 gene mutation screening of a family with congenital blepharophimosis-ptosis-epicanthus inversus syndrome
薛敏 1高次子 1汪渊 2周青 2乔丽珊 1李寿玲1
作者信息
- 1. 安徽医科大学第一附属医院眼科,合肥,230022
- 2. 安徽医科大学教育部"重要遗传病基因资源利用"重点实验室(省部共建),合肥,230032
- 折叠
摘要
Abstract
Objective To screen the FOXL2 gene in a family with congenital blepharophimosis-ptosis-epicanthus inversus syndrome ( BPES) , to determine the disease -causing gene Methods Genomic DNA was extracted from the peripheral blood from the BPES patients , the relatives of the families and normal controls. The exon of the gene was amplified by polymerase chain reaction ( PCR). The mutation of FOXL2 was screened by direct sequencing of the PCR products. The sequencing results were analyzed by DNAStar software . Results A missense mutation ( C. 578A > G) in FOXL2 had been detected, which caused lysine mutated into arginine at position 193. However, the variant was not found either in the non-carrier relatives or in 100 normal controls. Conclusion C. 578A > G mis-sense mutation of FOXL2 may change the protein by substituting arginine from lysine . It is likely to be the causes of the BPES in the family.关键词
睑裂狭小综合征/遗传/FOXL2基因/突变Key words
blepharophimosis syndrome / heredity/ FOXL2 gene/ mutation分类
医药卫生引用本文复制引用
薛敏,高次子,汪渊,周青,乔丽珊,李寿玲..一先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征家系FOXL2基因的突变检测[J].安徽医科大学学报,2012,47(5):527-530,4.
