Figure 3.

Genetic analyses of variants identified in the SNRNP200 Gene and its expression of SNRNP200 in cadaver eye tissues. (A) Expression of SNRNP200 in multiple cadaver eye tissues including cornea, iris, anterior capsule of lens (AC of lens), lens, posterior capsule of lens (PC of lens), ciliary body, vitreous body and neural retina and so on. retinal pigmented epithelium (RPE) is shown. A 285 bp PCR product of the SNRNP200 was detected in all tissues. A 299 bp PCR products of the human Gapdh were selected in parallel as control. (B) Sanger sequencing confirmation of the identified SNRNP200 mutations from the whole exome sequencing analysis in the recruited Chinese retinitis pigmentosa families. Sanger sequencing validation of the SNRNP200 mutations (c.6088C>T) identified by the WES analysis in this family.