CAJ | 학술논문

目的研究1个遗传性先天性无虹膜家系患者发病的分子遗传学机制.方法应用PCR产物直接测序法对1个遗传性先天性无虹膜家系的2例患者(先证者及其母亲)和1名正常家系成员的PAX6基因编码区的15个外显子(第1～1 5外显子)进行突变分析.结果先证者及其母亲的PA X6基因第1 3外显子均发现c.957-958delCA突变,其父亲未检测到相同突变；PAX6基因其它外显子均未发现序列异常.结论 PAX6基因第1 3外显子c.957-958delCA突变是该家系发生先天性无虹膜病的主要原因.
목적 연구1개유전성선천성무홍막가계환자발병적분자유전학궤제.방법 응용PCR산물직접측서법대1개유전성선천성무홍막가계적2례환자(선증자급기모친)화1명정상가계성원적PAX6기인편마구적15개외현자(제1～1 5외현자)진행돌변분석.결과 선증자급기모친적PA X6기인제1 3외현자균발현c.957-958delCA돌변,기부친미검측도상동돌변；PAX6기인기타외현자균미발현서렬이상.결론 PAX6기인제1 3외현자c.957-958delCA돌변시해가계발생선천성무홍막병적주요원인.
Objective To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.Methods Peripheral blood samples were taken for genomic IDNA extraction.All of the 15 exons of PAX6 gene were amplified with PCR,and the product were purified with gel electrophoresis and sequenced.Results In both patients,a novel deletion mutation (c.957-958delCA) in exon 13 of PAX6 gene was identified,which has produced a terminator codon.The same mutation was not identified in healthy controls.Conclusion A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.