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Aim: To clone and sequence the phosphodiesterase 6 beta subunit (pde6b) gene of Kunming mice, and to compare it with counterpart sequences in the GenBank database., Methods: The primers were designed covering the CDS region of the pde6b gene, and the corresponding fragments were amplified using RT-PCR. The fragments were cloned into plasmids, amplified in E.coli, and sequenced. Bioinformatics programs and online tools were used to analyze the sequences., Results: The CDS of the pde6b gene of Kunming mice was cloned and sequenced. Compared with the inbred mice C57BL/6J, pde6b CDS sequence of Kunming mice was different in some points: a G-->A transition at +706, a C-->T transversion at +1149. The protein sequence was of little difference: only a glycine-->serine at +236., Conclusion: The pde6b CDS region of Kunming mice was successfully cloned. Pde6b sequences are of some level difference in different kinds of mice, but they are most conserved in protein level.

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 abnormal bands was sequenced., Results: Within intron 10 of PDE6B gene, a mutation was found in an ARRP family, a G --> A transition at 19th base upstream 5'-end of exon 11. A novel complex heterozygous variant of PDE6B gene in a sporadic case, a T to C transition in codon 323 resulting in the substitution of Gly by Ser and two bp(TG) inserted between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in the same isolate RP. But they were not found in 100 unrelated normal individuals. A sporadic RP was found carrying a sequence variant of PDE6B gene, a G to C transversion in intron 18, the 15th base adjacent to the 3'end of exon 18. Another isolate RP was found to have 2 bp inserted between 31st and 32nd base upstream 5'end of exon 4 (in intron 3) of PDE6B gene., Conclusion: There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China. Several DNA variants were found in intron of PDE6B gene in the national population.