A
| α－fetoprotein | 甲胎蛋白 | |
| α-thalassemia | 甲型地中海貧血 | |
| abnormal hemoglobin | 異常血紅蛋白 | |
| ABO blood group | ABO血型 | |
| acetyl-transferase | 乙酰化酶 | |
| acetylcholine esterase | 乙酰膽堿酯酶 | |
| achromatopsia | 全色盲 | |
| additive effect | 累積效應(yīng) | |
| addittive gene | 累加基因 | |
| adenine | 腺嘌呤 | |
| adenosine deaminase | 腺苷脫氨酶 | |
| adenovirus-polylysine DNA-complex | 腺病毒多賴氨酸DNA復(fù)合體 | |
| adult polycystic kidney diseade(APKD) | 成人多囊腎病 | |
| affinity banding agent | 親和結(jié)合劑 | |
| agammaglobinemia | 無丙球蛋白血癥 | |
| albinism | 白化病 | |
| alcohol dehydrogenase | 乙醇脫氫酶 | |
| aldehyde dehydrogenase | 乙醛脫氫酶 | |
| allele specific oligonucleotide | 等位特異性寡核苷酸 | |
| α-globin gene cluster | α珠蛋白基因簇 | |
| allopurinol | 別嘌呤醇 | |
| alpecia,hereditary | 遺傳性早禿 | |
| alpha-thalassemia | α地中海貧血 | |
| Alu family Alu | 家族 | |
| amniocentasis | 羊膜穿刺 | |
| Amp-FLP | 擴增片段長度多態(tài)性 | |
| amplification | 擴增 | |
| amplified fragment length polymorphism | 擴增片段長度多態(tài)性 | |
| anaphase lag | 后期遲留 | |
| ankyrin | 錨蛋白 | |
| aneuploidy | 非整倍性，異倍性 | |
| angiotensin converting enzting enzyme | 血管緊張素轉(zhuǎn)化酶 | |
| angiotensinⅡ | 血管緊張素Ⅱ | |
| angiotensinogen | 血管緊張素原 | |
| antenatal diagnosis | 出生前診斷 | |
| antihemophilic globulin | 抗血友病球蛋白 | |
| antioncogene | 抗癌基因 | |
| antiparallel | 反向平行排列 | |
| antisense strand | 反義鏈 | |
| antisense oligdeoxynucleotide | 反義寡核苷酸 | |
| antisense technology | 反義技術(shù) | |
| antithrombin Ⅲ deficiency | 抗凝血酶Ⅲ缺乏癥 | |
| α-antitrypsin | α-抗胰蛋白酶 | |
| arch | 弓形紋 | |
| arch,tented loop | 蓬賬弓形紋 | |
| arylhdrocarbon hydroxylase | 芳烴羥化酶 | |
| ASO | 等位特異性寡核苷酸 | |
| association | 關(guān)聯(lián) | |
| ataxia telangiectasia,AT | 毛細(xì)血管擴張性共濟顯性遺傳 | |
| autosomal dominance inheritance | 常染色體顯性遺傳 | |
| recessive inheritance | 常染色體顯性遺傳 | |
| axial triradius | 軸三叉 | |
| 5′-azocytidine | 5氮胞苷 |
B
| balanced franslocation | 平衡易位 |
| Barts hydrops fetalis Barts | 水腫胎， Barts胎爾水腫綜合征 |
| basal cell nevus syndrome | 基底細(xì)胞痣 |
| Becker′s muscular dystrophy | 輕型假肥大型肌營養(yǎng)不良 |
| β-globin gene cluste | β珠蛋白因簇 |
| β-thalassemia | β地中海貧血 |
| Bloom′s syndrome Bloom′s | 綜合征 |
| blunt terminus | 平整末端 |
| brachydactyly | 短指癥 |
| break point cluster region | 斷點簇區(qū) |
| breakage | 斷裂 |
| brnachitis,chronic | 慢性支氣管炎 |
| bronchial asthma | 支氣管哮喘 |
| Burkitt lymphoma | 非洲惡性淋巴瘤 |
C
| CAAT box CAAT | 框（盒) |
| calitonin | 降鈣素 |
| calcitonin gene related pepitde | 降鈣素基因相關(guān)肽 |
| cancer genetics | 腫瘤遺傳學(xué) |
| cancer family | 癌家族 |
| candidate gene approach | 侯選基因方法 |
| carcinogenesis | 致癌 |
| caucinoma,familial | 家族性癌 |
| carrier,genetic | 遺傳攜帶者 |
| obligatory | 肯定攜帶者 |
| probable | 可能攜帶者 |
| cDNA probe | 探針 |
| cell fusion | 細(xì)胞融合 |
| character | 著絲粒融合 |
| chimetic minigene | 性狀 |
| cholestyamine | 嵌合小基因 |
| chorionic villi aspiration sampling | 消但胺 |
| chromosomal disease | 絨毛取樣 |
| assignment | 染色體病 |
| aberration | 染色體定位 |
| loss | 染色體畸變 |
| chronic bronchitis | 染色體丟失 |
| obstractive pulmonary disease | 慢性支氣管炎 |
| clastogen | 慢性阻塞性肺疾患 |
| cliical genetics | 斷裂劑 |
| clone panel method | 臨床遺傳學(xué) |
| clnidene | 克隆嵌板法 |
| coding strand | 可樂定 |
| co-dominance | 編碼鏈 |
| codon deletion | 共顯性 |
| codon insertion | 整碼缺失 |
| cohesive termius | 密碼子插入 |
| complemetn deficiency | 粘性末端 |
| complete androgen insensitivity syndrome | 補體缺乏癥 |
| complete dominance | 雄性素全不敏感綜合征 |
| complex genetic disease | 完全顯性 |
| componet analysis | 復(fù)雜性遺傳病 |
| concordance | 疾病組分分析 |
| condensation | 一致率，同病率 |
| conditional probability | 凝縮，固縮 |
| congenital | 條件概率 |
| pancytopenia | 先天性 |
| disease | 先天性全血細(xì)胞減少癥 |
| anomaly | 先天性疾病 |
| anomaly | 先天畸形 |
| absence of one kidney | 先天性單測腎缺如 |
| deficiency of activated protein C inhibitor | 先天性活化蛋白C抑制物缺乏癥 |
| heart defect | 先天性心臟缺陷 |
| malformation | 先天畸形 |
| consanguineous marrige | 近親婚配 |
| consensus sequence | 一致順序 |
| cordocentasis | 臍血抽吸 |
| coronary artery diseace | 冠心病 |
| counselee | 咨詢者 |
| counseling,genetic | 遺傳咨詢 |
| counselor | 咨詢醫(yī)生 |
| criss-cross inheritance | 交叉遺傳 |
| cryptic splicing site | 隱蔽裂解位點 |
| cystic fibrosis | 囊性纖維化 |
| cytogenetic map | 細(xì)胞遺傳圖 |
| cytogenetics | 細(xì)胞遺傳學(xué) |
| cytosine deaminase | 胞嘧啶脫氨酶 |
| cytosine | 胞嘧啶 |
D
| deafness | 耳聾 |
| defective virus | 缺陷型病毒 |
| deletion | 缺失 |
| interstitial | 中間缺失 |
| delayed dominance | 延遲顯性 |
| de novo | 新發(fā)生的 |
| deoxyribose | 脫氧核糖 |
| dermatoglyphy | 皮紋，皮膚紋理 |
| desferrioxamine | 去鐵胺 |
| developmental genetics | 發(fā)育遺傳學(xué) |
| deabetes mellitus | 糖尿病 |
| deagnosis of hereditary diseade | 遺傳病的診斷 |
| diagnosis,gene | 基因診斷 |
| digital flexion crease | 指褶線 |
| discontineous gene | 不連接基因 |
| dizygotic twin | 異卵雙生 |
| DNA viral mediated vector | DNA病毒介導(dǎo)載體 |
| DNA polymeraseⅠ | DNA聚合酶Ⅰ |
| dominant inheritance | 顯性遺傳 |
| gene | 顯性基因 |
| dosage compensation | 劑量補償 |
| double minute | 雙微體 |
| double loop whorl | 雙箕斗 |
| Down′syndrome | 先天愚型，唐氏綜合征 |
| drug targeting | 藥物靶向 |
| Duchenne muscular dystrophy | 假肥大型肌營養(yǎng)不良 |
| Duffy′s blood type Duffy | 血型 |
| duplication | 重復(fù) |
| dyschromatopsia of the protan and deutan | 紅綠色盲 |
| dysmorphology | 畸形學(xué) |
| dystrophin | 肌營養(yǎng)不良蛋白，抗肌萎縮蛋白 |
E
| ecogenetics | 生態(tài)遺傳學(xué) |
| Edward′s formula Edward | 公式 |
| Edward′s syndrome Edward | 綜合征，18在體型 |
| electroporotion | 電穿孔 |
| elliptocytosis | 橢圓形細(xì)胞增多癥 |
| empiric risk rate | 經(jīng)驗風(fēng)險率 |
| endonuclease, restriction | 限制性內(nèi)切酶 |
| endoreduplication | 核內(nèi)復(fù)制 |
| enhancer | 增強子 |
| enzyme transplantation | 酶移植 |
| enzymopathy | 酶病 |
| epilepsy | 癲癇 |
| equilibrium depletion | 平衡消除法 |
| eugenics, preventive | 預(yù)防性優(yōu)生學(xué) |
| eugenics | 優(yōu)生學(xué) |
| negative | 負(fù)優(yōu)生學(xué) |
| positive | 正優(yōu)生學(xué) |
| pregressive | 演進性優(yōu)生學(xué) |
| euthenics | 優(yōu)境學(xué) |
| exon | 外顯子 |
| exon trapping | 外顯子捕獲 |
| eapressivity | 表現(xiàn)度 |
F
| facilited diffusion | 易化擴散 |
| familial polyposis coli | 家族性多發(fā)性息肉 |
| carcioma | 家族性癌 |
| disease | 家族性疾病 |
| Fanconi anemia Fanconi | 貧血，先天性全血細(xì)胞減少癥 |
| fertility | 生育率 |
| fetoscope | 胎（兒)鏡 |
| finger tip patterns | 指紋類型 |
| FISH | 熒光原位雜交 |
| fitness | 適合度 |
| flanking sequence | 側(cè)翼順序 |
| fluorenscence in situ hybridization | 熒光原位雜交 |
| 5′fluorocytosine | 5′－氟胞嘧啶 |
| 5′fluorouracil | 5′氟尿嘧啶 |
| form fruste | 頓挫型 |
| forward mutation | 正向突變 |
| founder effer | 建立者效應(yīng) |
| fragile site | 脆性部位 |
| fragile X syndrome | 脆性X綜合征 |
| full mutation | 全突變 |
| functional cloning | 功能克隆 |
| furrow | 溝 |
| fusion gene | 融合基因 |
