一先天性无虹膜家系PAX6基因的突变检测  

Screening the mutation of PAX6 gene in a Chinese family with autosomal dominant hereditary congenital aniridia

作　　者：张棣[1] 周青[2] 薛敏[1] 汪渊[2] 李寿玲[1] 

机构地区：[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

出　　处：《安徽医科大学学报》2013年第8期945-948,共4页Acta Universitatis Medicinalis Anhui

摘　　要：目的对一常染色体显性遗传的先天性无虹膜家系进行配对盒基因(PAX6)突变检测,以鉴定其致病基因。方法收集一常染色体显性遗传的先天性无虹膜家系,采集该家系患者及其家族成员的外周血,提取基因组DNA,利用PCR扩增PAX6基因的全部外显子及外显子内含子连接处,直接测序,测序结果用DNAStar软件进行突变分析。并随机抽取100名健康人外周静脉血,进行PCR,测序检测,作为对照。结果无虹膜家系中患者均发现PAX6基因在第9内含子与第10外显子交界处出现杂合突变(IVS9-1G>A),导致DNA剪接异常。结论 PAX6基因的IVS9-1G>A突变使DNA剪接异常,导致蛋白质的改变,这可能是该常染色显性遗传家系先天性无虹膜的致病原因。Objective To screen the PAX6 gene in a family with autosomal dominant hereditary congenital anirid- ia, and to find the mutations of the gene. Methods The patients of a Chinese family with autosomal dominant he- reditary congenital aniridia were examined. Genomic DNA was extracted from the peripheral blood of the affected and unaffected members of the family, and the 100 normal controls. The exons and the flanking introns of the PAX6 gene were amplified by the polymerase chain reaction （PCR）. The mutation of PAX6 gene was screened by direct sequencing of PCR products. The sequencing results were analyzed by DNAStar software. Results A hetero- zygous mutation （ IVS9-1G 〉 A） at the boundary of intron 9 and exon 10 was detected in this family. It was not de- tected in the uaffected relatives and unrelated controls. Conclusion The heterozygous mutation （IVS9-1G 〉 A） of PAX6 gene may cause the aniridia in this Chinese family.

关 键 词：先天性无虹膜 PAX6基因 剪接突变 

分 类 号：R773.1[医药卫生—眼科] R394.3[医药卫生—临床医学]