Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

ABSTRACT:

Background

Haploinsufficiency at the PAX6 locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel PAX6 mutations that lead to familial aniridia in Indian patients.

Methods

Genomic DNA was isolated from affected individuals (clinically diagnosed aniridia) from nine unrelated aniridic pedigrees, unaffected family members, and unrelated normal controls. The coding regions of PAX6 were amplified and subjected to single strand conformation polymorphism (SSCP) gel analysis, and direct cloning and sequencing.

Results

SSCP band shifts, indicative of DNA base pair mutations, were observed in five of these unrelated families. Fou

SUBMITTER: Neethirajan G 

PROVIDER: S-EPMC1544350 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature