Article
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
Japanese journal of ophthalmology - 1 Nov 2011
Saqib Muhammad Arif Nadeem, Awan Bilal Malik, Sarfraz Mehwish, Khan Muhammad Nasim, Rashid Sajid, Ansar Muhammad
Abstract excerpt
BACKGROUND: To identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive ACHM. METHODS: Four families (50, 55, 70 and 74) exhibiting features of achromatopsia were subjected to homozygosity mapping with STS markers flanking known ACHM loci. Mutation screening was done for two of the families linked to CNGA3 and CNGB3 by direct sequencing of the coding...
Topics
- Aged
- Amino Acid Motifs
- Amino Acid Sequence
- Asian People
- Color Vision Defects
- Consanguinity
- Cyclic Nucleotide-Gated Cation Channels
- DNA Mutational Analysis
- Electroretinography
- Female