Back to Search
Start Over
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
- Source :
-
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2004 Nov; Vol. 45 (11), pp. 3871-6. - Publication Year :
- 2004
-
Abstract
- Purpose: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.<br />Methods: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).<br />Results: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.<br />Conclusions: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.
- Subjects :
- Adult
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Exons genetics
Gene Amplification
Humans
Polymerase Chain Reaction
Polymorphism, Genetic
Sequence Analysis, DNA
Anophthalmos genetics
Coloboma genetics
Eye Proteins genetics
Homeodomain Proteins genetics
Microphthalmos genetics
Mutation
Trans-Activators genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0146-0404
- Volume :
- 45
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Investigative ophthalmology & visual science
- Publication Type :
- Academic Journal
- Accession number :
- 15505031
- Full Text :
- https://doi.org/10.1167/iovs.04-0641