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目的 研究我国一个4代常染色体显性遗传视网膜色素变性(RP)家系患者的致病基因突变位点及临床表型特征。方法 对RP家系中的所有患者进行眼部及视觉电生理检查;对全部家系成员进行全基因组扫描及连锁分析, 对候选基因直接测序并通过限制性内切酶反应证实突变位点。结果 RP家系患者致病基因定位于染色体带19q13 4,微卫星标记物D19S589和D19S254之间不到4Mb区域。在所有患者的PRPF31基因内含子8的第一个碱基处发现一新的杂合突变(G>C),使内含子8的剪切供体由GT变为CT。RP家系患者的临床表型符合早期发病且弥漫型的RP患者类型。结论 我国该4代RP家系中的患者由PRPF31基因中一新的剪切位点的杂合突变致病(IVS8+1G>C)。
Objective To study the mutation sites and clinical phenotypes of a 4-generation autosomal dominant retinitis pigmentosa (RP) pedigree in China. Methods All patients in the pedigree of RP were subjected to ocular and visual electrophysiological examinations. Whole-genome scanning and linkage analysis were performed on all pedigree members. Candidate genes were directly sequenced and the mutation sites were confirmed by restriction endonuclease reaction. Results The genes of pathogenicity in patients with RP family were located in chromosome band 19q13 4, and the microsatellite markers D19S589 and D19S254 were less than 4Mb. A new heterozygous mutation (G> C) was found at the first base of intron 8 of PRPF31 gene in all patients, changing the cut donor of intron 8 from GT to CT. The clinical phenotype of patients with RP pedigrees is consistent with the type of patients with early onset and diffuse RP. Conclusions The patients in the fourth generation of Chinese pedigree of RP are pathogenic by heterozygous mutation at a new cleavage site of PRPF31 gene (IVS8 + 1G> C).