- 作者: M.Z. Haider a, L.V. Devarajan a,b, M. AI-Essa a,b, H. Kumar c
- 作者服務機構: a Paediatrics Department, Faculty of Medicine, Kuwait University, b Neonatal Unit, Maternity Hospital, c Ophthalmology Department, Ibn Sina Hospital, Kuwait
- 中文摘要: --
- 英文摘要: while in 24 of 95 ROP cases, the disease progressed toadvanced stages 4 or 5. The incidence of the AA geno-type of the C597A polymorphism was considerably high-er in advanced-stage ROP cases (83.3%) compared tospontaneously regressing ROP cases (0%) and the nor-mal controls (10.4%)(p<0.0001). For the other geno-types, no significant difference was detected betweenthe controls and ROP cases. In the case of the C110Gmutation in the ND gene, no significant differences weredetected between the controls and ROP cases, and themajority of subjects had a CC genotype in all threegroups.Retinopathy of prematurity (ROP) is a retinal vasculardisease which occurs in infants with a short gestationalage and low birth weight and may lead to retinal detach-ment and blindness. In some premature infants, ROPprogresses to advanced stages despite rigorous inter-vention, but in the majority, it spontaneously regressesbefore the threshold stage. Genetic factors, e.g.muta-tions in the Norrie disease (ND) gene, have been impli-cated in determining the progression of ROP to ad-vanced stages. We have identified a novel C597A poly-morphism of the ND gene; we screened this and anothermutation in the ND gene, C110G, in 210 prematureKuwaiti infants using PCR-RFLP, DNA sequence analysisand DNA enzyme immunoassay hybridization to investi-gate their association with advanced-stage ROP. In thiscohort of premature Kuwaiti newborns, 115 of 210 ba-bies had no eye problems and served as controls, while95 were found to have ROP. In 71 of the 95 ROP cases, thedisease spontaneously regressed at or before stage 3,
- 中文關鍵字: --
- 英文關鍵字: Mutation, Norrie disease gene, Polymorphism, Polymerase chain reaction, Retinopathy of prematurity