Polymerae Chain Reaction–Baed Rik Aement for Wilm Tumor in poradic Aniridia Original Reearch Article

Purpoe: poradic cae of aniridia have a 30% rik for the development of Wilm tumor. Current guideline for poradic aniridia recommend creening by renal ultraonography for the preence of tumor every 6 month until age 5 year. Deletion of chromoome 11p13 that affect both PAX6 (aniridia) and WT1 (Wilm tumor) loci are the bai for the aociation of thee two uncommon diorder. We ought to develop a rapid polymerae chain reaction–baed tet that could rule out a chromoome 11p13 deletion covering the PAX6-WT1 region in poradic aniridia. Method: Five patient with poradic aniridia were recruited. Polymerae chain reaction–baed genotyping wa carried out for ix highly informative marker loci acro the PAX6-WT1 region to determine whether thee patient had one or two haplotype. The reult were compared with thoe obtained from two cell line with known deletion in the PAX6-WT1 region. Reult: All five patient were heterozygou at leat at one of the four marker loci in the PAX6-WT1 region, indicating that there were no cae of gro chromoomal deletion. The cell line howed hemizygoity in the four marker loci within the PAX6-WT1 region and in one of the two flanking marker loci. Concluion: We have developed a rapid DNA tet with an etimated enitivity of 94.0% to 99.2%, uing tandard DNA diagnotic technique and equipment, to rule out chromoomal deletion in poradic aniridia. Patient in whom a chromoome 11p13 deletion ha been ruled out do not require repeated renal imaging to creen for Wilm tumor.