Article
Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.
Molecular vision - 1 Jan 2012
Pan Zhe, Lu Tingting, Zhang Xiaohui, Dai Hanjun, Yan Weiyu, Bai Fengge, Li Yang
Abstract excerpt
PURPOSE: To describe the clinical and genetic findings in two Chinese families with retinitis pigmentosa (RP). METHODS: Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for autosomal dominant retinitis pigmentosa (adRP) with a panel...
Topics
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Asian People
- Codon
- Exons
- Female
- Genetic Association Studies
- Genetic Loci
- Genetic Markers
- Haplotypes
- Humans
- Linkage Disequilibrium