.小詞典.

中英文對(duì)照名詞詞匯(三)

拷貝數(shù)變異 copy number variation(CNV)

淋巴毒素α lymphotoxin?α(LTα)

磷酸二酯酶4D phosphodiesterase 4D(PDE4D)

磷脂酶A2相關(guān)性神經(jīng)變性病 PLA2G6?associated neurodegeneration(PLAN)

磷脂酰肌醇3?激酶 phosphatidylinositol 3?kinase(PI3K)

路易小體 Lewy body(LB)

β?螺旋蛋白相關(guān)性神經(jīng)變性病 β?propeller protein?associated neurodegeneration(BPAN)

美國(guó)醫(yī)學(xué)遺傳學(xué)和基因組學(xué)會(huì) American College of Medical Genetics and Genomics(ACMG)

免疫反應(yīng)性 immunoreactivity(IR)

面?肩?肱型肌營(yíng)養(yǎng)不良癥 facioscapulohumeral muscular dystrophy(FSHD)

腦衰蛋白反應(yīng)調(diào)節(jié)蛋白?1 collapsin response mediator protein?1(CRMP?1)

腦組織鐵沉積性神經(jīng)變性病 neurodegeneration with brain iron accumulation(NBIA)

內(nèi)皮細(xì)胞特異性分子?1 endothelial cell specific molecule?1(ESM?1)

內(nèi)皮型一氧化氮合酶 endothelial nitric oxide synthase(eNOS)

逆轉(zhuǎn)錄?聚合酶鏈反應(yīng) reverse transcriptase?polymerase chain reaction(RT?PCR)

歐洲人類遺傳學(xué)會(huì) European Society of Human Genetics(ESHG)

全基因組測(cè)序 whole genome sequencing(WGS)

全基因組相關(guān)性研究 Genome?Wide Association Study(GWAS)

全面性發(fā)育遲緩 global developmental delay(GDD)

全面性強(qiáng)直?陣攣發(fā)作 generalized tonic?clonic seizure(GTCS)

全外顯子測(cè)序 whole exome sequencing(WES)

染色體微陣列分析 chromosomal microarray analysis(CMA)

人類表型標(biāo)準(zhǔn)用語(yǔ) Human Phenotype Ontology(HPO)

人胚腎細(xì)胞293 human embryonic kidney cell 293(HEK293)

溶血尿毒癥綜合征 hemolytic uremic syndrome(HUS)

少數(shù)等位基因頻率 minor allele frequency(MAF)

神經(jīng)傳導(dǎo)速度 nerve conduction velocity(NCV)

神經(jīng)鐵蛋白變性病 neuroferritinopathy(NFT)

世界衛(wèi)生組織生活質(zhì)量量表 World Health Orgahization Quality of Life?100(WHOQoL?100)

視覺誘發(fā)電位 visual?evoked potential(VEP)

雙側(cè)紋狀體?蒼白球?齒狀核鈣質(zhì)沉著癥 bilateral striatopallidodentate calcinosis(BSPDC)

睡眠期周期性肢體運(yùn)動(dòng)指數(shù) periodic limb movement index during sleep(PLMSI)

特發(fā)性基底節(jié)區(qū)鈣化 idiopathic basal ganglia calcification(IBGC)

特發(fā)性震顫 essential tremor(ET)

α?突觸核蛋白 α?synuclein(α?Syn)

微小RNA microRNA(miRNA)

微陣列比較基因組雜交 array comparative genomic hybridization(aCGH)

下丘腦?垂體?腎上腺 hypothalamic?pituitary?adrenal(HPA)

先天性肌營(yíng)養(yǎng)不良癥 congenital muscular dystrophy(CMD)

線粒體膜蛋白相關(guān)性神經(jīng)變性病 mitochondrial membrane protein?associated neurodegeneration(MPAN)

線粒體腦肌病 mitochondrial encephalomyopathy(ME)

PLA2G6相關(guān)性肌張力障礙?帕金森綜合征 PLA2G6?associated dystonia?parkinsonism(PLAN?OP)

小干擾RNA small interference RNA(siRNA)

信號(hào)傳導(dǎo)與轉(zhuǎn)錄激活因子3 signal transducer and activator of transcription 3(STAT3)

血管緊張素Ⅱ angiotensinⅡ(AngⅡ)

血管緊張素原 angiotensinogen(AGT)

血管緊張素轉(zhuǎn)換酶 angiotensin converting enzyme(ACE)

血管內(nèi)皮生長(zhǎng)因子 vascular endothelial growth factor(VEGF)

血管性血友病因子 von Willebrand factor(vWF)

血漿銅藍(lán)蛋白缺乏癥 aceruloplasminemia(ACP)

血小板源性生長(zhǎng)因子 platelet?derived growth factor(PDGF)