基因專業詞匯A腺苷脫氨酶缺乏癥adenosinedeaminasedeficiency(ADA)腺病毒adenovirusAlagille綜合征Alagillesyndrome等位基因allele氨基酸aminoacids動物模型animalmodel抗體antibody凋亡apoptosis路-巴綜合征ataxia-telangiectasia常染色體顯性autosomaldominant常染色體autosomeB細菌人工染色體bacterialartificialchromosome(BAC)堿基對basepair先天缺陷birthdefect骨髓移植bonemarrowtransplantationBRCA1/BRCA2C癌cancer后選基因candidategene癌carcinomacDNA文庫cDNAlibrary細胞cell染色體chromosome克隆cloning密碼codon天生的congenital重疊群contig囊性纖維化cysticfibrosis細胞遺傳圖cytogeneticmapD缺失deletion脫氧核糖核酸deoxyribonucleicacid(DNA)糖尿病diabetesmellitus二倍體diploidDNA復制DNAreplicationDNA測序DNAsequencing顯性的dominant雙螺旋doublehelix復制duplicationE電泳electrophoresisEllis-vanCreveldsyndrome酶enzyme外顯子exonF家族性地中海熱familialMediterraneanfever熒光原位雜交fluorescenceinsituhybridization(FISH)脆性X染色體綜合征FragileXsyndromeG基因gene基因擴增geneamplification基因表達geneexpression基因圖譜genemapping基因庫genepool基因治療genetherapy基因轉移genetransfer遺傳密碼geneticcode(ATGC)遺傳咨詢geneticcounseling遺傳圖geneticmap遺傳標記geneticmarker遺傳病篩查geneticscreening基因組genome基因型genotype種系germlineH單倍體haploidhaploinsufficiency造血干細胞hematopoieticstemcell血友病hemophilia雜合子heterozygous高度保守序列highlyconservedsequenceHirschsprung病Hirschsprung′sdisease純合子homozygous人工染色體humanartificialchromosome(HAC)人類基因組計劃HumanGenomeProject人類免疫缺陷病毒humanimmunodeficiencyvirus(HIV)/獲得性免疫缺陷綜合征acquiredimmunodeficiencysyndrome(AIDS)huntington舞蹈病Huntington′sdisease雜交hybridizationI免疫治療immunotherapy原位雜交insituhybridization繼承的inherited插入insertion知識產權intellectualpropertyrightsK敲除knockoutL白血病leukemia庫library鍵、連接linkage部位、場所locus優勢對數評分LODscore淋巴細胞lymphocyteM畸形malformation描圖mapping標記marker黑色素瘤melanoma孟德爾Mendel,Johann(Gregor)孟德爾遺傳Mendelianinheritance信使RNAmessengerRNA(mRNA)[分裂]中期metaphase微陣技術microarraytechnology線立體DNAmitochondrialDNA單體性monosomy小鼠模型mousemodel多發性內分泌瘤病multipleendocrineneoplasia,type1(MEN1)突變mutationN神經纖維瘤病neurofibromatosis尼曼-皮克病Niemann-Pickdisease,typeC(NPC)non-directivenessRNA印記Northernblot核苷酸nucleotide神經核nucleusO寡核苷酸oligo癌基因oncogenePp53Parkinson病Parkinson′sdisease專利權patent血系/譜系pedigree表型phenotype物理圖譜physicalmap多指畸形/多趾畸形polydactyly聚合酶鏈反應polymerasechainreaction(PCR)多態性polymorphism定位克隆positionalcloning原發性免疫缺陷primaryimmunodeficiency引物primer原核pronucleus前列腺癌prostatecancer蛋白proteinR隱性recessive逆轉錄病毒retrovirus核糖核酸ribonucleicacid(RNA)核糖體ribosomeriskcommunicationS序列標記位點sequence-taggedsite(STS)聯合免疫缺陷severecombinedimmunodeficiency(SCID)性染色體sexchromosome伴性的sex-linked體細胞somaticcellsDNA印記Southernblot光譜核型spectralkaryotype(SKY)替代substitution自殺基因suicidegene綜合征syndromeT技術轉讓technologytransfer轉基因的transgenic易位transl