Article
[Study of genetic mutation locus in a family with congenital aniridia].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Dec 2006
Cong Ri-chang, Song Shhu-juan, Liu Ying-zhi
Abstract excerpt
OBJECTIVE: The aim of this study was to determine the genetic mutation locus of congenital aniridia. METHODS: Peripheral vein blood (2-5 ml) was collected from all members of a congenital aniridia family. DNA was extracted, then, the primers of polymorphic microsatellite genetic markers were synthesized, followed by polymerase chain reaction (PCR) analysis. Polyacrylamide gel electrophoresis (PAGE) was used to...
Topics
- Adolescent
- Adult
- Aged
- Aniridia
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- DNA Primers
- Eye Proteins
- Female
- Genetic Loci
- Homeodomain Proteins
- Humans
- Male
- Middle Aged
- Mutation
- PAX6 Transcription Factor