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Abstract #9128 Published in IGR 5-2
A novel PAX6 gene mutation in an Indian aniridia patient
Neethirajan G; Hanson IM; Krishnadas SR; Vijayalakshmi P; Anupkumar K; Sundaresan PMolecular Vision 2003; 9: 205-209
PURPOSE: A mutation in the PAX6 gene is thought to be the genetic cause of aniridia. The authors looked for PAX6 gene mutations in Indian aniridia patients. METHODS: They amplified the coding exons of the PAX6 gene from the genomic DNA of 15 unrelated aniridia patients using polymerase chain reaction technology. They then performed single-strand conformation polymorphism analysis and heteroduplex analysis to search for sequence variants. RESULTS: Sequencing of shifted bands in two patients revealed PAX6 gene mutations. One of these was a novel mutation, 1180insA, located in exon 10 at the start of the PST domain. The other mutation, 1080C->T (R240X), located in exon 9 within the homeodomain, and is another example of the most commonly reported PAX6 mutation. CONCLUSIONS: Although PAX6 gene mutations and polymorphisms have been reported from various ethnic groups, the authors report the identification of PAX6 gene mutations in Indian aniridia patients for the first time.
Dr. G. Neethirajan, Department of Genetics, Aravind Medical Research Foundation, Madurai, India
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
