Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.</p><p><b>METHODS</b>Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.</p><p><b>RESULTS</b>A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.</p><p><b>CONCLUSION</b>A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.</p>