一个先天性无虹膜症家系中PAX6基因突变位点的检测

摘要

Objective To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.Methods Blood samples were drawn from family members,and DNA was analyzed by direct sequencing.Results A heterozygous mutation (c.1 5 1 G>A)was identified in the PAX6 gene in the proband and other patients from the family.The same mutation was not found among unaffected family members and 1 60 unrelated healthy controls.Conclusion A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.%目的：确定一个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家系所有成员13人外周静脉血,提取 DNA,对先证者PAX6基因的全部外显子进行 PCR 扩增及测序,发现异常后对家庭所有成员进行PAX6基因的检测,并对160例正常对照的全血 DNA 用 PCR-直接测序法排除多态性。结果先证者的PAX6基因第6外显子有一杂合突变(c.151G> A),造成第51位氨基酸的改变(p. Asp51Asn)；家系中所有患者均存在此突变,而正常家系成员和160例正常对照均未检测到相同突变。结论先证者PAX6基因的 c.151G>A 改变为致病突变。