[Identification of a novel PAX6 mutation in a family with congenital aniridia].
Copyright policy )[Identification of a novel PAX6 mutation in a family with congenital aniridia].
To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.In both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.
- Lanzhou University China (People's Republic of)
Adult, Homeodomain Proteins, Male, Base Sequence, PAX6 Transcription Factor, Molecular Sequence Data, Exons, Pedigree, Repressor Proteins, Asian People, Humans, Paired Box Transcription Factors, Female, Child, Eye Proteins, Aniridia, Sequence Deletion
Adult, Homeodomain Proteins, Male, Base Sequence, PAX6 Transcription Factor, Molecular Sequence Data, Exons, Pedigree, Repressor Proteins, Asian People, Humans, Paired Box Transcription Factors, Female, Child, Eye Proteins, Aniridia, Sequence Deletion
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