Analysis Of Pax6 Gene In A Chinese Aniridia Family

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. 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）. The PAX6 gene, a transcriptional regulator, is of high homology in many kinds of animal, which involves in ocular morphogenesis 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, a paired domain and a homeodomain separated by a linker region and a transcriptional activation proline-serine-threonine-rich （PST） domain at the C-terminus.