中华实验眼科杂志
中華實驗眼科雜誌
중화실험안과잡지
CHINESE JOURNAL OF EXPERIMENTAL OPHTHALMOLOGY
2015年
8期
764-767
,共4页
全色盲%突变%动物模型%基因治疗
全色盲%突變%動物模型%基因治療
전색맹%돌변%동물모형%기인치료
Achromatopsia%Mutation%Disease models,animal%Gene therapy
全色盲是一种常染色体隐性遗传视锥细胞功能障碍疾病,主要表现为畏光、眼球震颤、视力下降和色觉异常.目前共发现5个全色盲致病基因,分别是环核苷酸门控通道α3(CNGA3)、CNGB3、鸟嘌呤结合蛋白α转导活性肽2(GNAT2)、磷酸二酯酶6C(PDE6C)和PDE6H,这些基因在光传导通路中发挥重要作用,可导致全色盲的发生.部分全色盲动物模型通过基因治疗在一定程度上恢复了视功能.就全色盲的临床特点及遗传学研究,包括全色盲致病基因功能概况及基因突变、全色盲的动物模型和基因治疗进行综述.
全色盲是一種常染色體隱性遺傳視錐細胞功能障礙疾病,主要錶現為畏光、眼毬震顫、視力下降和色覺異常.目前共髮現5箇全色盲緻病基因,分彆是環覈苷痠門控通道α3(CNGA3)、CNGB3、鳥嘌呤結閤蛋白α轉導活性肽2(GNAT2)、燐痠二酯酶6C(PDE6C)和PDE6H,這些基因在光傳導通路中髮揮重要作用,可導緻全色盲的髮生.部分全色盲動物模型通過基因治療在一定程度上恢複瞭視功能.就全色盲的臨床特點及遺傳學研究,包括全色盲緻病基因功能概況及基因突變、全色盲的動物模型和基因治療進行綜述.
전색맹시일충상염색체은성유전시추세포공능장애질병,주요표현위외광、안구진전、시력하강화색각이상.목전공발현5개전색맹치병기인,분별시배핵감산문공통도α3(CNGA3)、CNGB3、조표령결합단백α전도활성태2(GNAT2)、린산이지매6C(PDE6C)화PDE6H,저사기인재광전도통로중발휘중요작용,가도치전색맹적발생.부분전색맹동물모형통과기인치료재일정정도상회복료시공능.취전색맹적림상특점급유전학연구,포괄전색맹치병기인공능개황급기인돌변、전색맹적동물모형화기인치료진행종술.
Achromatopsia is a kind of autosomal recessive cone disorder.It occurs with nystagmus,photophobia,inability of color discrimination and severely reduced visual acuity.Five pathogenic genes had been reported to be associated with achromatopsia:cyclic nucleotide-gated (CNG)A3,CNGB3,guanine nucleotide binding protein alpha transduction active pepitide 2(GNAT2),phosphodiesterase (PDE)6C and PDE6H.They are crucial for cone phototransduction.Mutations of these genes can induce achromatopsia.Gene therapy,which can recover partial visual function,has been successfully used for the treatment of achromatopsia in animal model.Clinical features,pathogenic genes functions and mutations,the animal models and gene therapy of achromatopsia were reviewed.
