Analysis of PAX6 gene in a Chinese aniridia family

作     者：ZHU Hai-yan WU Ling-qian PAN Qian LIANG De-sheng LONG Zhi-gao DAI He-ping XIA Kun XIA Jia-hui 

作者机构：National Laboratory of Medical Genetics Xiangya Hospital Central South University Changsha 410078 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2006年第119卷第16期

页      面：1400-1402页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：This study was supported by a grant from National "973" program (No.2001CB510302) 

主　　题：aniridia PAX6 frameshift mutation 

摘      要：Aniridia is a dominantly inherited eye anomaly characterized by the near or complete absence of the iris with an incidence of approximately 1：80 000.1 Other ocular complications include glaucoma, cataract, and optic nerve hypoplasia. Aniridia can occur by itself, showing an autosomal dominant inheritance, or as part of the WAGR syndrome （Wilm＇s tumor, aniridia, genitourinary abnormalities, and mental retardation）.2 The PAX6 gene, a transcriptional regulator, is of high homology in many kinds of animal, which involves in ocular morphogenesis3 and responsible for aniridia.＂ It is located on chromosome 11p13 and consists of 14 exons with the initiation codon in exon 4 and the termination codon in exon 13. The PAX6 protein has an unusual structure with two DNA-binding domains,