Screening The Mutation Of Rpgr And Rp2 Gene For X-linked Retinitis Pigmentosa

0bjective To analyze the phenotype characteristics of two X-linked retinitis pigmentosa pedigrees, to detect the mutation of the candidate genes of X-linked retinitis pigmentosa. Methods The medical history of two family members was taken in the context of consent from the two retinitis pigmentosa pedigrees, the patients'eyes were examined. At the same time, the peripheral blood of family members was collected, and the DNA was extracted. The peripheral blood of 100 out-patient random healthy also was collected and the DNA was extracted as control. The primers of RPGR, RP2, and ORF15 were designed used the Primer3 program, the exons were amplified by the polymerase chain reaction (PCR). All PCR products were sent to the Shanghai Sangon Co. After purifying, PCR products were sequenced by the ABI's 3170 automated sequencer. All the exons and exon/intron boundaries of the two genes, including the mutation hot spot-exon open reading frame 15(ORF15) of RPGR were screened. The sequencing was analyzed by DNAstar in order to find out mutation.Results The two RP families are X-linked retinitis pigmentosa based on genetic mapping, The family 1 was found two single base changes in the RPGR gene opening reading frame15, but in the 100 controls, also found the two base changes, therefore, they are the single nucleotide polymorphisms. In the NCBI-SNP database they are the c.3396 C→T, (p.N1132N) and c.3430-bit G→A change in (p.V1144I) respectively, and no gene mutation was found.Conclusion The mutation was not found in the two XLRP families. But the two base variations of family 1 was found in the hot spot of RPGR exon ORF15 , 3396 base C→T and 3430 base pair of the G→A transformation. The 3396 C→T base substitution did not change the encoded amino acid; 3430 G→A transition caused changes in amino acid sequence, but the same changes also found in the controls, so they are the single nucleotide polymorphisms phenomenon. Even though no mutation was found in RPGR and RP2 genes , but which laid a foundation for further study.