Li Juan, Zhao Li, Cai Xiao-jing, Lu Li, Li Gang
Centre for Laboratory Medicine, The First Affiliated Hospital of Lanzhou University, Lanzhou, Gansu 730000, P. R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):579-81. doi: 10.3760/cma.j.issn.1003-9406.2013.05.015.
To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.
Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.
In both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.
A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.
检测一个有两名成员患遗传性先天性无虹膜的中国家系中的潜在突变。
采集外周血样本用于基因组DNA提取。采用聚合酶链反应（PCR）扩增PAX6基因的全部15个外显子。产物经凝胶电泳纯化后进行测序。
在两名患者中均鉴定出PAX6基因第13外显子的一个新的缺失突变（c.957 - 958delCA），该突变产生了一个终止密码子。在健康对照中未发现相同突变。
PAX6基因的c.957 - 958delCA突变可能是这个中国家系中无虹膜的病因。
