ABSTRACT
<p><b>OBJECTIVE</b>To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>Our results indicate that mutation p.Arg240Ter of the PAX6 is the genetic basis of the Chinese family with congenital aniridia.</p>