[Identification of a nonsense mutation causing X-linked RP2 in two Chinese families].
OBJECTIVE
To detect mutations of the RP2 gene in two Chinese families with X-linked retinitis pigmentosa (XLRP).


METHODS
Eight pairs of primers designed from exon and intron sequence of the RP2 gene were used for the amplification of eight segments which encompass all exons of the gene. PCR were carried out with human genomic DNA as the template. The PCR products were sequenced after being purified. Mutation was identified by comparing DNA sequences of patients with that of normal controls.


RESULTS
The mutation 358C-->T was detected in exon 2 of the RP2 gene in both families. It changed the codon CGA for Arginine to a terminator codon TGA and causes retinitis pigmentosa in the two families.


CONCLUSIONS
The mutation 358C-->T is useful in analyzing the function of RP2 protein and gene diagnosis of XLRP.
Liu
L
L
Department of Human Genes, Institute of Genetics, Fudan University, Shanghai 200433, China.
Wei
Y
Y
Chen
H
H
D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins; D005192:Family Health; D005260:Female; D019204:GTP-Binding Proteins; D008040:Genetic Linkage; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
D018389:Codon, Nonsense; D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; C072178:RP2 protein, human; D004247:DNA; D019204:GTP-Binding Proteins