CAJ | 학술논문

目的探讨先天性无虹膜症一家系的致病基因突变情况与发病机制.方法采用病例对照研究方法.对该家系所有成员21人进行全面的眼科检查,同时进行家系调查并采集外周血样本,分离单个核细胞;用基因组DNA纯化试剂盒提取基因组DNA,以先证者DNA为模板聚合酶链反应法扩增转录因子PAX6基因全部14个外显子,用双脱氧末端终止法进行测序分析.结果测序结果发现先证者Ⅲ2的PAX6基因在第11外显子上有Q310X(c.1378C>T)无义突变.它导致了第301位氨基酸密码子由CAA改变为TAX(Q301X),编码的谷氨酰胺突变为强终止密码子.对该家系中所有21名成员PAX6基因测序,结果发现所有10例患者都携带这一突变,而11名正常人则未检测到这一改变.结论 PAX6基因Q310X的无义突变所致PAX6蛋白翻译提前终止是此先天性无虹膜症家系的致病原因.
목적 탐토선천성무홍막증일가계적치병기인돌변정황여발병궤제.방법 채용병례대조연구방법.대해가계소유성원21인진행전면적안과검사,동시진행가계조사병채집외주혈양본,분리단개핵세포;용기인조DNA순화시제합제취기인조DNA,이선증자DNA위모판취합매련반응법확증전록인자PAX6기인전부14개외현자,용쌍탈양말단종지법진행측서분석.결과 측서결과발현선증자Ⅲ2적PAX6기인재제11외현자상유Q310X(c.1378C>T)무의돌변.타도치료제301위안기산밀마자유CAA개변위TAX(Q301X),편마적곡안선알돌변위강종지밀마자.대해가계중소유21명성원PAX6기인측서,결과발현소유10례환자도휴대저일돌변,이11명정상인칙미검측도저일개변.결론 PAX6기인Q310X적무의돌변소치PAX6단백번역제전종지시차선천성무홍막증가계적치병원인.
Objective To explore the pathogenic mutation in a Chinese family with congenital aniridia.Methods It is a case-control study.All 21 members of the family underwent a comprehensive ophthalmic examination and family line investigation.Mononuclear cell was isolated from peripheral blood and genomic DNA was prepared by genomic DNA purification kit.All fourteen exons of the PAX6 gene were amplified by polymerase chain reaction(PCR) from proband's genomic DNA.PCR products of each exon were analyzed by direct sequencing.Results A nonsense mutation (Q310X)in exon 11 of PAX6 gene was detected by sequencing analysis in the proband Ⅲ2.This mutation cause the 301st amino acids codon swtch from CAA to TAA and the codogenic amino acids alterd from glutamine glutaminic acid to strong terminal codon.This mutation is also detected in all 11 patients of this family, but not present in the unaffected members in this family.Conclusion The premature translation termination of PAX6 gene caused by a nonsense mutation of Q310X should be responsible for congenital aniridia in this Chinese family.