Novel mutations of the PAX6 gene identified in Chinesepatients with aniridia

[摘要] Purpose: Mutations in PAX6 are the major cause of aniridia. Onlya few PAX6 mutations in Chinese have been reported. This study is toidentify novel mutations in PAX6 of Chinese patients with aniridia.Methods: Aniridia patients were collected from 11 Chinese families,and genomic DNA was prepared from venous leukocytes. The coding regionsof PAX6 were analyzed by direct sequencing of PCR products.Variations detected were further evaluated in available family membersas well as in controls by using heteroduplex-SSCP analysis.Results: Four novel mutations including c.141+1G>A, c.184-3C>G, c.542C>A (Ser181X), and c.562C>T (Gln188X) and one knownmutation c.120C>A (Cys40X) were identified in PAX6 of fiveunrelated patients with aniridia. All five mutations are expected togenerate null alleles of PAX6. Varied ocular phenotypes wereobserved in different patients within families.Conclusions: We identified four novel mutations and 1 known mutationin the human PAX6 gene. These results expand the mutation spectrumin PAX6 and enrich our knowledge of genotype-phenotype relation dueto PAX6 mutations.

[学科分类] 生物化学/生物物理