Analysis Of Mutations Of Disease-causing Gene In Sporadic Retinitis Pigmentosa Using Exon Trapping

Objective: To detect the disease-causing genes of sporadic retinitis pigmentosa(SRP) by using exon trapping and the second generation sequencing technology,and study the pattern of inheritance.Methods: From March 2013 to October 2014, 49 SRP were recruited for this study in Ningxia Eye Hospital. All the patients and family members received complete ophthalmic examinations. DNA was abstracted from patients and family members. Using exon combined target region capture sequencing chip to screen the 230 candidate disease-causing mutations Polymerase chain reaction(PCR) and direct sequencing were used to confirm the disease-causing mutations.Results: 24 patients are identified disease-causing genes in 49 patients(55%),16 genes were involved. The disease-causing genes include: USH2 A, C2orf71, GNGA1, RPGR1, IFT140, CRB1, TULP1, CLRN1, RPE65, ABCA4, GUCA1, EYS, CYP4V2, GPR98, ATXN7.Most of the mutations are novel. Through the analysis of the genetic screening are members of the genealogy, 24 of all are ARRP,3 of all are ADRP and 1of is XLRP. 3 of the 7 patients with USH2 A mutations were identified as USHER syndrome.Conclusions: Rapid and effective genetic diagnosis technology combined with clinical characteristics analysis is helpful to improve the level of clinical diagnosis of SRP.Most of SRP actually are ARRP.