一先天性无虹膜症家系的PAX6基因突变研究

目的 确定一先天性无虹膜症家系的PAX6基因致病突变.方法 采集先证者及其患病女儿、表型正常父母和弟弟的外周静脉血,提取DNA,对先证者PAX6的全部外显子及外显子内含子接头处进行PCR扩增及测序,发现异常后检测其他家庭成员的PAX6基因是否存在此改变;选取PAX6基因附近的STR进行亲缘关系检测和突变来源鉴定.结果 患者的PAX6基因c.219位缺失一个T的(c.219delT),造成移码突变,使肽链合成提前终止;其患病的女儿也有同样改变;先证者的父母和弟弟均无此改变.先证者发生突变的等位基因条带来源于其父亲,其弟获得同样的父源基因标记.结论 先证者PAX6基因的c.219delT改变为致病突变,且为新生突变.

Gene Mutation Analysis of PAX6 in a Family with Congenital Aniridia

ObjectiveTo characterize the PAX6 gene mutation in a family with congenital aniridia. MethodsBlood samples of family members were collected. Mutation was screened by direct sequencing the exons and the flanking introns of PAX6 gene amplified by polymerase chain reaction (PCR). The parental origin of mutation was carried out by STR analysis near PAX6 gene. ResultsA1bp deletion (C.219 delT) was identified in the proband and her affected daughter, which was not detected in her healthy parents and her young brother. ConclusionThe c.219delT in PAX6 gene is the cause of congenital aniridia in the family. It was a new mutation and was not reported in the literature.