中国人与欧美人USH2A基因突变谱不同

摘要

Usher syndrome (USH) is the most common syndromic retinitis pigmentosa (RP),which is an autosomal recessive disorder.RP is highly clinically and genetically heterogeneous.A total of 12 loci including nine genes have been identifiedas causing various clinical subtypes of USH.The USH2A gene is thought to be involved in the pathogenesis of most USH2 cases.Moreover,mutations of the USH2A gene is also responsible for atypical USH and nonsyndromic retinitis pigmentosa.Some studies found that the mutation spectrum among Chinese RP patients might differ from European Caucasians.Herein,the further survey should be performed to ascertain the hot gene mutation spectrum.%Usher综合征是一种常见的综合征性视网膜色素变性(RP),为常染色体隐性遗传性疾病,具有临床和遗传高度异质性.迄今已将Usher综合征的致病基因定位了12个染色体位点,确定了其中的9个致病基因.很多研究证实USH2A基因是Usher综合征的主要致病基因,USH2A基因突变还可引起单纯性RP,但国内的一些研究结果发现,中国人USH2A基因突变谱与欧美人不同.中国人RP致病的热点基因谱尚有待进一步研究.