A
| α－fetoprotein | 甲胎蛋白 | |
| α-thalassemia | 甲型地中海贫血 | |
| abnormal hemoglobin | 异常血红蛋白 | |
| ABO blood group | ABO血型 | |
| acetyl-transferase | 乙酰化酶 | |
| acetylcholine esterase | 乙酰胆碱酯酶 | |
| achromatopsia | 全色盲 | |
| additive effect | 累积效应 | |
| addittive gene | 累加基因 | |
| adenine | 腺嘌呤 | |
| adenosine deaminase | 腺苷脱氨酶 | |
| adenovirus-polylysine DNA-complex | 腺病毒多赖氨酸DNA复合体 | |
| adult polycystic kidney diseade(APKD) | 成人多囊肾病 | |
| affinity banding agent | 亲和结合剂 | |
| agammaglobinemia | 无丙球蛋白血症 | |
| albinism | 白化病 | |
| alcohol dehydrogenase | 乙醇脱氢酶 | |
| aldehyde dehydrogenase | 乙醛脱氢酶 | |
| allele specific oligonucleotide | 等位特异性寡核苷酸 | |
| α-globin gene cluster | α珠蛋白基因簇 | |
| allopurinol | 别嘌呤醇 | |
| alpecia,hereditary | 遗传性早秃 | |
| alpha-thalassemia | α地中海贫血 | |
| Alu family Alu | 家族 | |
| amniocentasis | 羊膜穿刺 | |
| Amp-FLP | 扩增片段长度多态性 | |
| amplification | 扩增 | |
| amplified fragment length polymorphism | 扩增片段长度多态性 | |
| anaphase lag | 后期迟留 | |
| ankyrin | 锚蛋白 | |
| aneuploidy | 非整倍性，异倍性 | |
| angiotensin converting enzting enzyme | 血管紧张素转化酶 | |
| angiotensinⅡ | 血管紧张素Ⅱ | |
| angiotensinogen | 血管紧张素原 | |
| antenatal diagnosis | 出生前诊断 | |
| antihemophilic globulin | 抗血友病球蛋白 | |
| antioncogene | 抗癌基因 | |
| antiparallel | 反向平行排列 | |
| antisense strand | 反义链 | |
| antisense oligdeoxynucleotide | 反义寡核苷酸 | |
| antisense technology | 反义技术 | |
| antithrombin Ⅲ deficiency | 抗凝血酶Ⅲ缺乏症 | |
| α-antitrypsin | α-抗胰蛋白酶 | |
| arch | 弓形纹 | |
| arch,tented loop | 蓬账弓形纹 | |
| arylhdrocarbon hydroxylase | 芳烃羟化酶 | |
| ASO | 等位特异性寡核苷酸 | |
| association | 关联 | |
| ataxia telangiectasia,AT | 毛细血管扩张性共济显性遗传 | |
| autosomal dominance inheritance | 常染色体显性遗传 | |
| recessive inheritance | 常染色体显性遗传 | |
| axial triradius | 轴三叉 | |
| 5′-azocytidine | 5氮胞苷 |
B
| balanced franslocation | 平衡易位 |
| Barts hydrops fetalis Barts | 水肿胎， Barts胎尔水肿综合征 |
| basal cell nevus syndrome | 基底细胞痣 |
| Becker′s muscular dystrophy | 轻型假肥大型肌营养不良 |
| β-globin gene cluste | β珠蛋白因簇 |
| β-thalassemia | β地中海贫血 |
| Bloom′s syndrome Bloom′s | 综合征 |
| blunt terminus | 平整末端 |
| brachydactyly | 短指症 |
| break point cluster region | 断点簇区 |
| breakage | 断裂 |
| brnachitis,chronic | 慢性支气管炎 |
| bronchial asthma | 支气管哮喘 |
| Burkitt lymphoma | 非洲恶性淋巴瘤 |
C
| CAAT box CAAT | 框（盒) |
| calitonin | 降钙素 |
| calcitonin gene related pepitde | 降钙素基因相关肽 |
| cancer genetics | 肿瘤遗传学 |
| cancer family | 癌家族 |
| candidate gene approach | 侯选基因方法 |
| carcinogenesis | 致癌 |
| caucinoma,familial | 家族性癌 |
| carrier,genetic | 遗传携带者 |
| obligatory | 肯定携带者 |
| probable | 可能携带者 |
| cDNA probe | 探针 |
| cell fusion | 细胞融合 |
| character | 着丝粒融合 |
| chimetic minigene | 性状 |
| cholestyamine | 嵌合小基因 |
| chorionic villi aspiration sampling | 消但胺 |
| chromosomal disease | 绒毛取样 |
| assignment | 染色体病 |
| aberration | 染色体定位 |
| loss | 染色体畸变 |
| chronic bronchitis | 染色体丢失 |
| obstractive pulmonary disease | 慢性支气管炎 |
| clastogen | 慢性阻塞性肺疾患 |
| cliical genetics | 断裂剂 |
| clone panel method | 临床遗传学 |
| clnidene | 克隆嵌板法 |
| coding strand | 可乐定 |
| co-dominance | 编码链 |
| codon deletion | 共显性 |
| codon insertion | 整码缺失 |
| cohesive termius | 密码子插入 |
| complemetn deficiency | 粘性末端 |
| complete androgen insensitivity syndrome | 补体缺乏症 |
| complete dominance | 雄性素全不敏感综合征 |
| complex genetic disease | 完全显性 |
| componet analysis | 复杂性遗传病 |
| concordance | 疾病组分分析 |
| condensation | 一致率，同病率 |
| conditional probability | 凝缩，固缩 |
| congenital | 条件概率 |
| pancytopenia | 先天性 |
| disease | 先天性全血细胞减少症 |
| anomaly | 先天性疾病 |
| anomaly | 先天畸形 |
| absence of one kidney | 先天性单测肾缺如 |
| deficiency of activated protein C inhibitor | 先天性活化蛋白C抑制物缺乏症 |
| heart defect | 先天性心脏缺陷 |
| malformation | 先天畸形 |
| consanguineous marrige | 近亲婚配 |
| consensus sequence | 一致顺序 |
| cordocentasis | 脐血抽吸 |
| coronary artery diseace | 冠心病 |
| counselee | 咨询者 |
| counseling,genetic | 遗传咨询 |
| counselor | 咨询医生 |
| criss-cross inheritance | 交叉遗传 |
| cryptic splicing site | 隐蔽裂解位点 |
| cystic fibrosis | 囊性纤维化 |
| cytogenetic map | 细胞遗传图 |
| cytogenetics | 细胞遗传学 |
| cytosine deaminase | 胞嘧啶脱氨酶 |
| cytosine | 胞嘧啶 |
D
| deafness | 耳聋 |
| defective virus | 缺陷型病毒 |
| deletion | 缺失 |
| interstitial | 中间缺失 |
| delayed dominance | 延迟显性 |
| de novo | 新发生的 |
| deoxyribose | 脱氧核糖 |
| dermatoglyphy | 皮纹，皮肤纹理 |
| desferrioxamine | 去铁胺 |
| developmental genetics | 发育遗传学 |
| deabetes mellitus | 糖尿病 |
| deagnosis of hereditary diseade | 遗传病的诊断 |
| diagnosis,gene | 基因诊断 |
| digital flexion crease | 指褶线 |
| discontineous gene | 不连接基因 |
| dizygotic twin | 异卵双生 |
| DNA viral mediated vector | DNA病毒介导载体 |
| DNA polymeraseⅠ | DNA聚合酶Ⅰ |
| dominant inheritance | 显性遗传 |
| gene | 显性基因 |
| dosage compensation | 剂量补偿 |
| double minute | 双微体 |
| double loop whorl | 双箕斗 |
| Down′syndrome | 先天愚型，唐氏综合征 |
| drug targeting | 药物靶向 |
| Duchenne muscular dystrophy | 假肥大型肌营养不良 |
| Duffy′s blood type Duffy | 血型 |
| duplication | 重复 |
| dyschromatopsia of the protan and deutan | 红绿色盲 |
| dysmorphology | 畸形学 |
| dystrophin | 肌营养不良蛋白，抗肌萎缩蛋白 |
E
| ecogenetics | 生态遗传学 |
| Edward′s formula Edward | 公式 |
| Edward′s syndrome Edward | 综合征，18在体型 |
| electroporotion | 电穿孔 |
| elliptocytosis | 椭圆形细胞增多症 |
| empiric risk rate | 经验风险率 |
| endonuclease, restriction | 限制性内切酶 |
| endoreduplication | 核内复制 |
| enhancer | 增强子 |
| enzyme transplantation | 酶移植 |
| enzymopathy | 酶病 |
| epilepsy | 癫痫 |
| equilibrium depletion | 平衡消除法 |
| eugenics, preventive | 预防性优生学 |
| eugenics | 优生学 |
| negative | 负优生学 |
| positive | 正优生学 |
| pregressive | 演进性优生学 |
| euthenics | 优境学 |
| exon | 外显子 |
| exon trapping | 外显子捕获 |
| eapressivity | 表现度 |
F
| facilited diffusion | 易化扩散 |
| familial polyposis coli | 家族性多发性息肉 |
| carcioma | 家族性癌 |
| disease | 家族性疾病 |
| Fanconi anemia Fanconi | 贫血，先天性全血细胞减少症 |
| fertility | 生育率 |
| fetoscope | 胎（儿)镜 |
| finger tip patterns | 指纹类型 |
| FISH | 荧光原位杂交 |
| fitness | 适合度 |
| flanking sequence | 侧翼顺序 |
| fluorenscence in situ hybridization | 荧光原位杂交 |
| 5′fluorocytosine | 5′－氟胞嘧啶 |
| 5′fluorouracil | 5′氟尿嘧啶 |
| form fruste | 顿挫型 |
| forward mutation | 正向突变 |
| founder effer | 建立者效应 |
| fragile site | 脆性部位 |
| fragile X syndrome | 脆性X综合征 |
| full mutation | 全突变 |
| functional cloning | 功能克隆 |
| furrow | 沟 |
| fusion gene | 融合基因 |
