眼科新进展2017，Vol.37Issue(12)：1153-1157,5.DOI:10.13389/j.cnki.rao.2017.0291
两个中国籍先天性眼外肌纤维化家系基因定位与临床分型
Genetic localization and clinical classification of congenital fibrosis of the extraocular muscles in 2 Chinese families
摘要
Abstract
Objective To determine the pathogenic mutant gene and the classification for 2 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM) by using candidate genes methods.Methyls All members in the 2 Chinese families with CFEOM were collected and underwent for clinical data collection,including medical history,physical examination and 5-8 mL peripheral venous blood for DNA extraction.Exon 2,8,20,21 of KIF21A,exon 1,2,3 of PHOX2A/ARIX,exon 1,2,3,and 4 of TUBB2B and exon 1,2,3,4 of TUBB3 were selected and synthesized by PCR,and the amplified samples were purified for sequences analysis by Chromas2.3 and DNAman7.0 software.Results There were 9 members developed CFEOM in family 1,with the typical CFEOM characteristics.The mutation site was located in KIF21A (exon 21),2860C ＞ T;and 4 patients in family 2 suffered this disease,and the typical CFEOM appearance features was in 3 patients.The mutation site was located in TBUU3 (exon 4),1249 G ＞ A.Conclusion The candidate genes methods can be used to identify the pathogenic genes of pedigrees with inherited diseases effectively.Family 1 belongs to CFEOM 1A type,which is the autosomal dominant inheritance with complete penetrance,and family 2 belongs to CFEOM 3A type,whivh is the autosomal dominant inheritance with incomplete penetrance.关键词
先天性眼外肌纤维化/常染色体显性遗传/KIF21A基因/TUBB3基因Key words
congenital fibrosis of the extraocular muscles/autosomal dominant inheritance/KIF21A gene/TUBB3 gene分类
医药卫生引用本文复制引用
杨璐,杨海军,易敬林,胡圆,周亮..两个中国籍先天性眼外肌纤维化家系基因定位与临床分型[J].眼科新进展,2017,37(12):1153-1157,5.基金项目
江西省科技厅自然科学基金(编号:20132BAB205028) （编号:20132BAB205028）
江西省科技支撑计划(编号:2013BBG70093) （编号:2013BBG70093）
江西省远航工程(编号:2017001) （编号:2017001）
江西省教育厅科研基金(编号:GJJ150286) （编号:GJJ150286）
江西省教育厅科研计划重点项目(编号:GJJ160049)Natural Science Foundation of Jiangxi Province (No:20132BAB205028) （编号:GJJ160049）
Technology and Science Foundation of Jiangxi Province (No:2013BBG70093) （No:2013BBG70093）
Jiangxi Province Voyage Project (No:2017001) （No:2017001）
Education Department Foundation of Jiangxi Province (No:GJJ150286) （No:GJJ150286）
Key Education Department Foundation of Jiangxi Province (No:GJJ160049) （No:GJJ160049）
