早产儿视网膜病变Norrie disease基因突变研究

目的验证Norriedisease(ND)基因是否与早产儿视网膜病变有关及黄种人中是否存在较高的突变率。方法对25例进展期早产儿视网膜病变的患儿进行临床及生物分子学检查。通过外周血人基因组DNA提取,采用聚合酶链式反应(PCR)扩增,非同位素标记单链构象多态性(SSCP)分析,硝酸银染色法及直接测序法。结果2例患儿的第3外显子的非读码框架基因序列经银染后可见2条异常条带出现,并经直接测序验正发生基因的点突变由T到C,而外显子1及2以及其剪接区均未发现突变。对照组未发现相同突变。结论早产儿视网膜病变与ND基因的突变可能具有一定的联系。

Analysis of Norrie disease gene in patients with retinopathy of prematurity

ObjectiveTo determine the prevalence of norrie disease (ND) gene mutation in patients with retinopathy of prematurity in China.MethodsClinical examination and molecular genetic analyses were performed in 25 pre-term babies with advanced ROP.The leukocyte DNA was extracted and amplified by the polymerase chain reaction (PCR),and DNA sequence was analyzed by single-strand conformation polymorphism (sscp) and direct determine method.All three exons including splice sites were screened.ResultsTwo of the 25 patients with advanced retinopathy of prematurity showed point mutation in the non-read frame of the third exon of the ND gene.Similar analyses of the first and second exon region failed to detect additional mutation,including splice sites.None of the controls revealed similar mutation.ConclusionND gene mutation may involve in the development of severe ROP in premature infants.