Article
[Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2003
Cui Yun, Wang Li, Zhao Kan-xing, Wang Qing, Chen Wei-ying, Wang Li-ming
Abstract excerpt
OBJECTIVE: To investigate the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene and incidence in Chinese retinitis pigmentosa (RP) patients. METHODS: Genomic DNA was extracted from the blood samples of 38 patients from 35 autosomal recessive retinitis pigmentosa (ARRP) families and 55 sporadic cases. The mutation of the PDE6B gene was detected using PCR-SSCP, and the amplified PCR product of...
Topics
- Adult
- Asian People
- Base Sequence
- China
- Cyclic Nucleotide Phosphodiesterases, Type 6
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational