Wang Li-ming, Ying Ming, Wang Xia, Wang Yu-chuan, Hao Peng, Li Ning-dong
Ophthalmic College of Tianjin Medical University; Tianjin Eye Hospital; Tianjin Eye Institute, Tianjin, 300020, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):546-9. doi: 10.3760/cma.j.issn.1003-9406.2009.05.016.
To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia.
Linkage analysis was performed to the Chinese family with congenital aniridia using two microsatellite markers D11S904 and D11S935. Analysis of the PAX6 gene mutation was done by direct sequencing of the whole coding region and exon-intron boundaries of the PAX6 gene in all affected and unaffected individuals in the family.
The significant Lod Score of 3.01 was acquired at D11S935. Direct DNA sequence analysis identified a 1080C to T change in exon 9 of the patients, resulting in an Arginine substitution by a stop codon at codon 240 of the PAX6 gene, which was absent in the unaffected individuals in the family and 100 normal controls.
Our results indicate that mutation p.Arg240Ter of the PAX6 is the genetic basis of the Chinese family with congenital aniridia.
研究一个中国先天性无虹膜家系中的PAX6基因突变情况。
使用两个微卫星标记D11S904和D11S935对该中国先天性无虹膜家系进行连锁分析。通过对家系中所有患病和未患病个体的PAX6基因整个编码区及外显子-内含子边界进行直接测序，分析PAX6基因突变情况。
在D11S935处获得显著的Lod分值3.01。直接DNA序列分析确定患者第9外显子存在1080C至T的变化，导致PAX6基因第240密码子处精氨酸被终止密码子替代，家系中未患病个体及100名正常对照中均未出现该变化。
我们的结果表明PAX6基因的p.Arg240Ter突变是该中国先天性无虹膜家系的遗传基础。
