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部分分表数据：
| 中文名称 | 英文名称 |
| 互换 | crossing over |
| 超氧化物歧化酶Ⅰ | superoxide dismutase Ⅰ |
| 贝克肌营养不良 | Becker muscular dystrophy |
| 通贯型 | simple creace |
| 间期细胞遗传学 | interphase cytogenetics |
| 发育遗传学 | developmental genetics |
| 辐射遗传学 | radiation genetics |
| 反求遗传学 | reverse genetics |
| 负优生学 | negative eugenics |
| 线粒体遗传 | mitochondrial inheritance |
| 水平传递 | horizontal transmission |
| 显示杂合子 | manifesting heterozygote |
| 类显性 | quasidominance |
| 受精卵 | fertilized ovum |
| 体细胞互换 | somatic crossing over |
| 染色体突变 | chromosome mutation |
| 整倍体 | euploid |
| 假二倍体 | pseudodiploid |
| 四倍体 | tetraploid |
| 不平衡易位 | unbalanced translocation |
| 遗传性易位 | inherited translocation |
| 嵌合体 | mosaic |
| 反向插入 | inverted insertion |
| 双箕斗 | double loop whorl |
| 总指嵴数 | total finger ridge count |
| 过渡型 | transitional type |
| 猿线 | simian crease |
| 枫糖尿症 | maple syrup urine disease |
| 神经鞘脂贮积症 | sphingolipidosis |
| 胎儿苯妥英钠综合征 | fetal dilantin syndrome |
| 脊柱裂 | spina bifida |
| 神经纤维瘤病 | neurofibromatosis |
| 遗传性共济失调 | hereditary ataxia |
| 韦德尼希-霍夫曼综合征 | Werdnig-Hoffmann disease |
| 巴尔得-别德尔综合征 | Bardet-Biedl syndrome |
| 努南综合征 | Noonan syndrome |
| 先天性甲状腺功能减退症 | congenital hypothyroidism |
| 先天性肾上腺皮质增生症 | congenital adrenal cortical hyper- plasia |
| 翻译 | translation |
| 翻译后修饰 | post-translational modification |
| 融合基因 | fusion gene |
| 非翻译区 | untranslated region |
| 末端标记 | end labelling |
| 限制[性内切酶]图 | restriction map |
| 菌落原位杂交 | in situ colony hybridization |
| DNA印迹法 | Southern blotting |
| 畸形学 | dysmorphology |
| 孟德尔遗传 | mendelian inheritance |
| 限性遗传 | sex-limited inheritance |
| 性状 | trait |
| 均等分裂期 | equational division phase |
| 减数分裂期 | reduction division phase |
| 拟基因型 | genocopy |
| 卵子发生 | oogenesis |
| 染色体畸变 | chromosome aberration |
| 多倍体 | polyploid |
| 超二倍体 | hyperdiploid |
| 环状染色体 | ring chromosome |
| 衍生染色体 | derivative chromosome |
| 着丝粒融合 | centric fusion |
| 核仁组织区 | nucleolar organizing region |
| 临界区域 | critical region |
| 染色质 | chromatin |
| 常染色质 | euchromatin |
| X染色质 | X chromatin |
| Y小体 | Y body |
| 功能性异染色质 | facultative heterochromatin |
| 着丝粒异染色质 | centromeric heterochromatin |
| 随体联合 | satellite association |
| 断裂热点 | breakage hot spot |
| 双雄受精 | diandry |
| 双雌受精 | digyny |
| 后期迟延 | anaphase lag |
| 桡箕 | radial loop |
| 指纹型 | fingerprint pattern |
| 糖原贮积症Ⅴ型 | glycogen storage disease type Ⅴ |
| 全氨基酸尿症 | generalized aminoaciduria |
| 有机酸代谢病 | disorder of organic acid metabo- lism |
| 生物素酰胺酶缺乏症 | biotinidase deficiency |
| α-珠蛋白生成障碍性贫血 | α-thalassemia |
| β-珠蛋白生成障碍性贫血 | β-thalassemia |
| 丙酮酸激酶缺乏症 | pyruvate kinase deficiency |
| 遗传性球形红细胞增多症 | hereditary spherocytosis |
| 遗传性椭圆形红细胞增多症 | hereditary elliptocytosis |
| 低磷酸酯酶症 | hypophosphatasia |
| 绒毛吸取 | villus aspiration |
| 症状前诊断 | presymptomatic diagnosis |
| 多基因病 | polygenic disease |
| 眼距过窄 | ocular hypotelorism |
| 出生缺陷 | birth defect |
| 小头[畸形] | microcephaly |
| 舟状头[畸形] | scaphocephaly |
| 短头[畸形] | brachycephaly |
| 假性软骨发育不全 | pseudoachondroplasia |
| 成骨不全 | osteogenesis imperfecta |
| 进行性假肥大性肌营养不良 | Duchenne muscular dystrophy |
| 厘摩 | centimorgan |
| 色盲 | color blindness |
| 视网膜母细胞瘤 | retinoblastoma |
| 二次突变假说 | Knudson hypothesis |
| 癌基因 | oncogene |
| 抑癌基因 | antioncogene |
| 原癌基因 | proto-oncogene |
| 重叠基因 | overlapping genes |
| 突变基因 | mutant gene |
| 基因簇 | gene cluster |
| 附加体 | episome |
| 摆动假说 | wobble hypothesis |
| 诱发突变 | induced mutation |
| 渗漏突变体 | leaky mutant |
| 回复体 | revertant |
| 回复突变 | back mutation |
| 基因间DNA | intergenic DNA |
| 反向重复[序列] | inverted repeat |
| 无义突变 | nonsense mutation |
| 斑点杂交 | dot blot hybridization |
| 限制酶 | restriction endonuclease |
| 基因治疗 | gene therapy |
| 基因转移 | gene transfer |
| 包装细胞株 | packaging cell line |
| 乳白型突变 | opal mutation |
| 双亲中值 | midparent value |
| 多态性 | polymorphism |
| 味盲 | taste blindness |
| 适合度 | fitness |
| 兼向性病毒 | amphotropic virus |
| 自然选择 | natural selection |
| 选择压力 | selection pressure |
| 一致性 | concordance |
| 遗传负荷 | genetic load |
| 克兰费尔特综合征 | Klinefelter syndrome |
| 生化遗传学 | biochemical genetics |
| 药物遗传学 | pharmacogenetics |
| 免疫遗传学 | immunogenetics |
| 法医遗传学 | medicolegal genetics |
| 半合子 | hemizygote |
| 遗传复合体 | genetic compound |
| 显性 | dominance |
| 早现[遗传] | anticipation |
| 连锁 | linkage |
| 连锁群 | linkage group |
| 有丝分裂 | mitosis |
| [分裂]前期 | prophase of cell division |
| [分裂]中期 | metaphase of cell division |
| [分裂]后期 | anaphase of cell division |
| [分裂]末期 | telophase of cell division |
| 卵原细胞 | oogonium |
| 初级精母细胞 | primary spermatocyte |
| 初级卵母细胞 | primary oocyte |
| 重组 | recombination |
| 重排 | rearrangement |
| 核型 | karyotype |
| 丹佛体制 | Denver system |
| 精子发生 | spermatogenesis |
| 亚二倍体 | hypodiploid |
| 异固缩 | heteropyknosis |
| 整臂易位 | whole arm translocation |
| 相互易位 | reciprocal translocation |
| 染色体多态性 | chromosomal polymorphism |
| 微核 | micronucleus |
| 核小体 | nucleosome |
| 同线性 | synteny |
| [染色体]带型 | banding pattern |
| 长臂 | long arm |
| 鼓槌体 | drumstick |
| 双微体 | double minute |
| 性[别]分化 | sex differentiation |
| 三叉点 | triradius |
| 恶性高苯丙氨酸血症 | malignant hyperphenylalaninemia |
| 主线 | main line |
| 悉尼线 | Sidney line |
| 黏多糖贮积症ⅢB型 | mucopolysaccharidosis type ⅢB |
| 黏多糖贮积症ⅢD型 | mucopolysaccharidosis type ⅢD |
| 子代 | filial generation |
| 携带者 | carrier |
| 肯定携带者 | obligatory carrier |
| 再现风险 | recurrence risk |
| 经验风险 | empiric risk |
| 产前诊断 | prenatal diagnosis |
| 羊膜腔穿刺术 | amniocentesis |
| 绒[毛]膜绒毛活检 | chorionic villus biopsy |
| 确认 | ascertainment |
| 咨询者 | consultant |
| 贝叶斯定理 | Bayes theorem |
| 后概率 | posterior probability |
| 多因子病 | multifactorial disease |
| 易患性 | liability |
| 双生子卵性诊断 | zygosity diagnosis |
| 亲子关系 | paternity |
| 一级亲属 | first degree relative |
| 眼距过宽 | ocular hypertelorism |
| 小眼球 | microphthalmia |
| 唇裂序列征 | cleft lip sequence |
| 智力低下 | mental retardation |
| 皮肤松弛症 | cutis laxa |
| 眼脑肾综合征 | oculo-cerebro-renal syndrome |
| 比较基因定位[法] | comparative gene mapping |
| 基因顺序 | gene order |
| 中心法则 | central dogma |
| 转录 | transcription |
| 复制 | replication |
| 半保留复制 | semiconservative replication |
| 先导链 | leading strand |
| 基因家族 | gene family |
| 突变 | mutation |
| 突变率 | mutation rate |
| 密码兼并 | code degeneracy |
| 致突变原 | mutagen |
| 致癌原 | carcinogen |
| 变异体 | variant |
| 细胞株 | cell strain |
| 种系 | germ line |
| 同源框 | homeobox |
| 诱变 | mutagenesis |
| 信使RNA | messenger RNA |
| 基因组文库 | genomic library |
| 基因文库 | gene library |
| 染色体文库 | chromosome library |
| 基因库 | gene bank |
| 重复序列 | repetitive sequence |
| 信息体 | informosome |
| 剪接体 | spliceosome |
| 遗传密码 | genetic code |
| 等位[基因]排斥 | allelic exclusion |
| 长末端重复[序列] | long terminal repeat |
| 同向重复[序列] | direct repeat |
| 转染 | transfection |
| 分子杂交 | molecular hybridization |
| 测序 | sequencing |
| 错义突变 | missense mutation |
| 有义链 | sense strand |
| 反义链 | antisense strand |
| 异向性病毒 | xenotropic virus |
| 先体外后体内基因转移 | ex vivo gene transfer |
| 不一致性 | discordance |
| 创建者效应 | founder effect |
| 遗传致死 | genetic lethal |
| 亲缘系数 | coefficient of relationship |
| 表型模拟 | phenocopy |
| 连锁图 | linkage map |
| 减数分裂 | meiosis |
| 交叉端化 | terminalization of chiasma |
| 二价体 | bivalent |
| 染色体脆性 | chromosome fragility |
| 重组染色体 | recombinant chromosome |
| 中着丝粒染色体 | metacentric chromosome |
| 常染色体 | autosome |
| 第一次[减数]分裂不分离 | first division nondisjunction |
| 精氨基琥珀酸酶缺乏症 | argininosuccinase deficiency |
| 甲基丙二酸尿症 | methylmalonic aciduria |
| 急性间歇性卟啉病 | acute intermittent porphyria |
| 门克斯病 | Menkes disease |
| 植烷酸贮积症 | Refsum disease |
| 黏多糖贮积症IS型 | mucopolysaccharidosis type IS |
| 黏多糖贮积症ⅢC型 | mucopolysaccharidosis type ⅢC |
| 遗传度 | heritability |
| 遗传易患性 | hereditary susceptibility |
| 大头[畸形] | macrocephaly |
| 小角膜 | microcornea |
| 短指短趾[畸形] | brachydactyly |
| 同源性 | homology |
| 细胞系 | cell line |
| 定向诱变 | site directed mutagenesis |
| 重组DNA | recombinant DNA |
| 互补DNA文库 | complementary DNA library |
| 共有序列 | consensus sequence |
| 转座 | transposition |
| 反式作用因子 | trans-acting-factor |
| 锌指蛋白 | zinc finger protein |
| 螺旋-转角-螺旋 | helix-turn-helix |
| 基因组探针 | genomic probe |
| 生物素标记探针 | biotinylated probe |
| 赭石型突变 | ochre mutation |
| [DNA]复性 | renaturation |
| 低密度脂蛋白受体 | low density lipoprotein receptor |
| 反转录酶 | reverse transcriptase |
| 体细胞基因治疗 | somatic cell gene therapy |
| 表达载体 | expression vector |
| 包装信号 | packaging signal |
| 无辅助病毒包装细胞 | helper [virus] free packaging cell |
| 连锁不平衡 | linkage disequilibrium |
| 短臂 | short arm |
| 白线 | white line |
| 菌株 | strain |
| 粗线期 | pachytene stage |
| 缺失定位[法] | deletion mapping |
| 衔接易位 | tandem translocation |
| 掌纹型 | palm pattern |
| 遗传印记 | genetic imprinting |
| 唐氏综合征 | Down syndrome |
| 平衡易位 | balanced translocation |
| 主缢痕 | primary constriction |
| 遗传性代谢缺陷 | inborn error of metabolism |
| 原核细胞 | prokaryotic cell |
| 序列特异的寡核苷酸探针 | sequence-specific oligonucleotide probe |
| 近亲系数 | coefficient of consanguinity |
| 核性别 | nuclear sex |
| 读框 | reading frame |
| 分子遗传学 | molecular genetics |
| 分子细胞遗传学 | molecular cytogenetics |
| 生态遗传学 | ecogenetics |
| 遗传流行病学 | genetic epidemiology |
| 皮纹学 | dermatoglyphics |
| 人类遗传学 | human genetics |
| 临床遗传学 | clinical genetics |
| 隐性 | recessive |
| 质量性状 | qualitative trait |
| 阈值性状 | threshold trait |
| 从性性状 | sex-influenced trait |
| 获得性状 | acquired character |
| 混合遗传 | blending inheritance |
| 连锁分析 | linkage analysis |
| 核型模式图 | idiogram |
| 数目畸变 | numerical aberration |
| 四分体 | tetrad |
| 重组异倍性 | recombination aneusomy |
| 家族性唐氏综合征 | familial Down syndrome |
| 18三体综合征 | trisomy 18 syndrome |
| 13三体综合征 | trisomy 13 syndrome |
| 猫叫综合征 | cri du chat syndrome |
| 三X女性 | triple X female |
| 臂间倒位 | pericentric inversion |
| 臂内倒位 | paracentric inversion |
| 倒位环 | inversion loop |
| 中间缺失 | intercalary deletion |
| 非整倍体 | aneuploid |
| 标记染色体 | marker chromosome |
| 粉碎染色体 | pulverized chromosome |
| 无着丝粒断片 | acentric fragment |
| 三射[染色]体 | triradial chromosome |
| 四射[染色]体 | quadriradial chromosome |
| 性染色体 | sex chromosome |
| 迟复制Ｘ染色体 | late replicating X chromosome |
| 顺向插入 | direct insertion |
| 带 | band |
| 界标 | landmark |
| 着丝粒 | centromere |
| 动粒 | kinetochore |
| 端粒 | telomere |
| 副缢痕 | secondary constriction |
| 失活中心 | inactivation center |
| 莱昂假说 | Lyon hypothesis |
| 微细胞 | microcell |
| 同源片段 | homologous fragment |
| 性腺发育不全 | gonadal dysgenesis |
| 姐妹染色单体交换 | sister chromatid exchange |
| 简弓 | simple arch |
| 帐弓 | tented arch |
| 尺箕 | ulnar loop |
| atd角 | atd angle |
| T距比 | T distance ratio |
| 主线指数 | main line index |
| 主线横向指数 | main line index of transversality |
| 糖原贮积症Ⅱ型 | glycogen storage disease type Ⅱ |
| 糖原贮积症Ⅳ型 | glycogen storage disease type Ⅳ |
| 糖原贮积症Ⅵ型 | glycogen storage disease type Ⅵ |
| 尿素循环障碍 | urea cycle disorder |
| 鸟氨酸氨甲酰转移酶缺乏症 | ornithine transcarbamoylase defi- ciency |
| 氨甲酰磷酸合成酶缺乏症 | carbamyl phosphate synthetase deficiency |
| 家族性复合高脂血症 | familial combined hyperlipidemia |
| 家族性高脂血症Ⅲ型 | familial hyperlipidemia type Ⅲ |
| 家族性高胆固醇血症 | familial hypercholesterolemia |
| 卟啉病 | porphyria |
| 高酪氨酸血症 | hypertyrosinemia |
| 同型胱氨酸尿症 | homocystinuria |
| 肾上腺脊髓神经病 | adrenomyeloneuropathy |
| 无过氧化氢酶血症 | acatalasemia |
| 溶酶体贮积症 | lysosomal storage disease |
| 黏多糖贮积症IH型 | mucopolysaccharidosis type IH |
| 黏多糖贮积症Ⅶ型 | mucopolysaccharidosis type Ⅶ |
| 黏脂贮积症Ⅱ型 | mucolipidosis type Ⅱ |
| 黏脂贮积症Ⅲ型 | mucolipidosis type Ⅲ |
| 甘露糖苷贮积症 | mannosidosis |
| 甲状腺素结合球蛋白缺乏症 | thyroxine-binding globulin defi- ciency |
| 睾丸女性化 | testicular feminization |
| 类固醇5α-还原酶缺乏症 | steroid 5α-reductase deficiency |
| 假性甲状旁腺功能减退症 | pseudohypoparathyroidism |
| 低磷酸血症骨病 | hypophosphatemic bone disease |
| 维生素D依赖性佝偻病Ⅱ型 | Vitamin D dependent rickets type Ⅱ |
| 葡萄糖-6-磷酸脱氢酶缺乏症 | glucose-6-phosphate dehydroge- nase deficiency |
| α1-抗胰蛋白酶缺乏症 | α1-antitrypsin deficiency |
| GM1神经节苷脂贮积症 | GM1 gangliosidosis |
| 异染性脑白质营养不良 | metachromatic leukodystrophy |
| 多种硫酸酯酶缺乏症 | multiple sulfatase deficiency |
| 酸性脂酶缺乏症 | acid lipase deficiency |
| 胎儿镜检查 | fetoscopy |
| 羊水细胞 | amniocyte |
| 羊水细胞培养 | amniotic cell culture |
| 父系遗传 | paternal inheritance |
| 母亲年龄效应 | maternal age effect |
| 父亲年龄效应 | paternal age effect |
| 全同胞 | full-sib |
| 半同胞 | half-sib |
| 面中部发育不良 | mid facial hypoplasia |
| 蹼颈 | webbed neck |
| 多指[畸形] | polydactyly |
| 多趾[畸形] | polydactyly |
| 大疱性表皮松解症 | epidermolysis bullosa |
| 少汗性外胚层发育不良 | hypohidrotic ectodermal dysplasia |
| 有汗性外胚层发育不良 | hidrotic ectodermal dysplasia |
| 半侧面部肢体发育不良 | hemifacial microsomia |
| 颈淋巴管阻塞序列征 | jugular lymphatic obstruction sequence |
| 血友病 | hemophilia |
| 多囊肾 | polycystic kidney |
| 家族性出血性肾炎 | Alport syndrome |
| 海豹肢畸形 | phocomelia |
| 胎儿缺碘效应 | fetal iodine deficiency effect |
| 胎儿氨基蝶呤效应 | fetal aminopterin effect |
| 神经管缺陷 | neural tube defect |
| 无脑儿 | anencephaly |
| 颅缝早闭 | craniosynostosis |
| 尖头并指[畸形] | acrocephalosyndactyly |
| 尖头并趾[畸形] | acrocephalosyndactyly |
| 尖头多趾并趾[畸形] | acrocephalopolysyndactyly |
| 肢带型肌营养不良 | limb-girdle type muscular dystro- phy |
| 骨化性肌炎 | myositis ossificans |
| 德朗热综合征 | de Lange syndrome |
| 拉塞尔-西尔弗综合征 | Russell-Silver syndrome |
| 鲁宾斯坦-泰比综合征 | Rubinstein-Taybi syndrome |
| 哈勒曼-斯特雷夫综合征 | Hallermann-Streiff syndrome |
| 塞克尔综合征 | Seckel syndrome |
| 早老症 | progeria |
| 科凯恩综合征 | Cockayne syndrome |
| 普拉德-威利综合征 | Prader-Willi syndrome |
| 布卢姆综合征 | Bloom syndrome |
| 波伊茨-耶格综合征 | Peutz-Jeghers syndrome |
| 加德纳综合征 | Gardner syndrome |
| 两性畸形 | hermaphroditism |
| 斯德奇-韦伯综合征 | Sturge-Weber syndrome |
| 囊性纤维化 | cystic fibrosis |
| 基因组 | genome |
| 基因 | gene |
| 重组率 | recombination fraction |
| 优势对数计分 | lod score |
| 加工信号 | processing signal |
| 原转录本 | primary transcript |
| 位置效应 | position effect |
| 基因探针 | gene probe |
| DNA探针 | DNA probe |
| RNA探针 | RNA probe |
| 寡核苷酸探针 | oligonucleotide probe |
| 亮氨酸拉链 | leucine zipper |
| 阻遏蛋白 | repressor protein |
| 小卫星DNA | minisatellite DNA |
| 聚合酶链反应 | polymerase chain reaction |
| 锚定PCR | anchor PCR |
| 反转录PCR | reverse transcriptional PCR |
| 不对称PCR | asymmetric PCR |
| 生育率 | fertility |
| 噬斑原位杂交 | in situ plaque hybridization |
| 条形斑点杂交 | slot blot hybridization |
| 染色体原位杂交 | in situ chromosomal hybridization |
| 单链构型多态性 | single strand conformation poly- morphism |
| 耐热性DNA聚合酶 | Taq DNA polymerase |
| 反转录病毒 | retrovirus |
| 病毒载体 | viral vector |
| 生殖细胞基因治疗 | germ line gene therapy |
| [病毒]反转录酶基因 | [viral]reverse transcriptase gene |
| 染色体步移 | chromosome walking |
| 染色体跳移 | chromosome jumping |
| 自主复制序列 | autonomous replication sequence |
| 遗传平衡 | Hardy-Weinberg equilibrium |
| 基因流动 | gene flow |
| 单体型 | haplotype |
| 选择婚配 | assortative mating |
| 选择松弛 | relaxation of selection |
| 隔离群 | isolate |
| 医学遗传学 | medical genetics |
| 不外显 | non-penetrance |
| 常染色体隐性 | autosomal recessive |
| 精原细胞 | spermatogonium |
| 次级卵母细胞 | secondary oocyte |
| 性转变综合征 | sex reversal syndrome |
| 掌褶纹 | palmar flexion crease |
| 岩藻糖苷贮积症 | fucosidosis |
| GM2神经节苷脂贮积症变异型B | GM2 gangliosidosis variant B |
| 球形细胞脑白质营养不良 | globoid cell leukodystrophy |
| 遗传性淀粉样变性 | hereditary amyloidosis |
| 前概率 | prior probability |
| 破裂序列征 | disruptive sequence |
| 近交 | inbreeding |
| CHARGE联合征 | CHARGE association |
| 骨硬化病 | osteopetrosis |
| 脊椎骨骺发育不良 | spondyloepiphyseal dysplasia |
| 着色性干皮病 | xeroderma pigmentosum |
| 修饰基因 | modifying gene |
| 加性基因 | additive gene |
| 抑制基因 | suppressor gene |
| 转座元件 | transposable element |
| 自发突变 | spontaneous mutation |
| 加A信号 | poly A addition signal |
| 竞争性PCR | competitive PCR |
| 莱施-奈恩综合征 | Lesch-Nyhan syndrome |
| 吉姆萨显带 | Giemsa banding |
| 区域定位图 | regional map |
| 垂直传递 | vertical transmission |
| 分离 | segregation |
| 自由组合 | independent assortment |
| 基因多效性 | gene pleiotropism |
| 细线期 | leptotene stage |
| 偶线期 | zygotene stage |
| 双线期 | diplotene stage |
| 核网期 | dictyotene stage |
| 终变期 | diakinesis stage |
| 染色体交叉 | chromosomal chiasma |
| 联会 | synapsis |
| 联会复合体 | synaptonemal complex |
| 表型 | phenotype |
| 野生型 | wild type |
| 基因型 | genotype |
| 极体 | polar body |
| 精子 | sperm |
| 配子 | gamete |
| 受精 | fertilization |
| 合子 | zygote |
| 前核 | pronucleus |
| 有丝分裂互换 | mitotic crossing over |
| 不等互换 | unequal crossing over |
| 染色体 | chromosome |
| 同源染色体 | homologous chromosome |
| 二倍体 | diploid |
| 中期染色体 | metaphase chromosome |
| 不分离 | nondisjunction |
| 有丝分裂不分离 | mitotic nondisjunction |
| 相邻分离 | adjacent segregation |
| 相间分离 | alternate segregation |
| 罗伯逊易位 | robertsonian translocation |
| 脆[性]X染色体 | fragile X chromosome |
| 脆[性]X综合征 | fragile X syndrome |
| 脆性位点 | fragile site |
| 费城染色体 | Philadelphia chromosome |
| 着丝粒指数 | centromeric index |
| X染色体失活 | X-chromosome inactivation |
| 弓形纹 | arch |
| 斗形纹 | whorl |
| 箕形纹 | loop |
| 嵴数 | ridge count |
| 嵴线 | ridge line |
| 重组体 | recombinant |
| 细胞杂交 | cell hybridization |
| 原位杂交 | in situ hybridization |
| 显微切割 | microdissection |
| 遗传性果糖不耐受症 | hereditary fructose intolerance |
| 糖原贮积症Ⅰa型 | glycogen storage disease type Ⅰa |
| 糖原贮积症Ⅰb型 | glycogen storage disease type Ⅰb |
| 类固醇硫酸酯酶缺乏症 | steroid sulfatase deficiency |
| 白化病 | albinism |
| 异常血红蛋白 | hemoglobin variant |
| 系谱 | pedigree |
| 家族 | kindred |
| 亲代 | parental generation |
| 胱氨酸尿症 | cystinuria |
| 哈特纳普病 | Hartnup disease |
| 家族性肾性亚氨基甘氨酸尿症 | familial renal iminoglycinuria |
| 胱氨酸贮积症 | cystinosis |
| 一级堂表亲 | first cousin |
| 遗传咨询 | genetic counselling |
| 条件概率 | conditional probability |
| 联合概率 | joint probability |
| 高危 | high risk |
| 染色体病 | chromosome disease |
| 单基因病 | monogenic disease |
| 遗传异质性 | genetic heterogeneity |
| 并指并趾[畸形] | syndactyly |
| 肘外翻 | cubitus valgus |
| 蜘蛛样趾 | arachnodactyly |
| 畸形 | malformation |
| 序列征 | sequence |
| 畸形谱 | spectrum of defects |
| 变形序列征 | deformation sequence |
| 联合征 | association |
| 波伦序列征 | Poland sequence |
| 软骨发育不全 | achondroplasia |
| 软骨发育不良 | hypochondroplasia |
| 心手综合征 | Holt-Oram syndrome |
| 进行性神经性腓骨肌萎缩症 | Charcot-Marie-Tooth disease |
| 强直性肌营养不良 | myotonic dystrophy |
| 上位基因 | epistatic gene |
| 线粒体基因 | mitochondrial gene |
| 主基因 | major gene |
| 易患基因 | susceptibility gene |
| 细胞质基因 | plasmagene |
| 等位基因 | allele |
| 点突变 | point mutation |
| 转换 | transition |
| 持家基因 | housekeeping gene |
| 致死基因 | lethal gene |
| 报道基因 | reporter gene |
| 超基因 | super gene |
| 基因拷贝 | gene copy |
| 调控区 | control region |
| 转录终止区 | transcription termination region |
| 内含子 | intron |
| 启动子 | promoter |
| 增强子 | enhancer |
| 侧翼序列 | flanking sequence |
| 重组质粒 | recombinant plasmid |
| 缺口平移 | nick translation |
| 引物延伸 | primer extension |
| S1核酸酶作图 | S1 nuclease mapping |
| 核糖核酸酶保护测定 | ribonuclease protection assay |
| 裂点簇区 | breakpoint cluster region |
| 细胞原位杂交 | in situ cytohybridization |
| 共转染 | cotransfection |
| 电穿孔 | electroporation |
| 交配型 | mating type |
| 近亲结婚 | consanguineous marriage |
| 包装缺陷突变体 | package defective mutant |
| 辅助病毒 | helper virus |
| 同向性病毒 | ecotropic virus |
| 选择系数 | selection coefficient |
| 杂种优势 | hybrid vigor |
| 迁移 | migration |
| 移民 | immigration |
| 性比 | sex ratio |
| 双生子法 | twin method |
| 物种 | species |
| 物种形成 | speciation |
| 趋异 | divergence |
| 适者生存 | survival of the fittest |
| 系统发育 | phylogeny |
| 个体发育免疫学 | ontogenyimmunology |
| 近交系数 | coefficient of inbreeding |
| 通径分析 | path analysis |
| 外显子 | exon |
| 染色体臂 | chromosome arm |
| GM2神经节苷脂贮积症变异型O | GM2 gangliosidosis variant O |
| 埃勒斯-当洛斯综合征 | Ehlers-Danlos syndrome |
| 同源重组 | homologous recombination |
| 互补DNA探针 | complementary DNA probe |
| 琼脂糖凝胶电泳 | agarose gel electrophoresis |
| 杂交繁殖 | outbreeding |
| 单亲二体 | uniparental disomy |
| 特纳综合征 | Turner syndrome |
| 等臂染色体 | isochromosome |
| 断裂 | break |
| 裂隙 | gap |
| 臂指数 | arm index |
| 核内复制 | endoreduplication |
| 均染区 | homogeneously staining region |
| 染色体丢失 | chromosome loss |
| 关联 | association |
| 非姐妹染色单体 | non-sister chromatid |
| 喹吖因[荧光]显带 | quinacrine banding |
| 着丝粒显带 | centromeric banding |
| 随机婚配 | random mating |
| 糖原贮积症Ⅲ型 | glycogen storage disease type Ⅲ |
| 糖原贮积症Ⅶ型 | glycogen storage disease type Ⅶ |
| 二氢蝶啶还原酶缺乏型 | dihydropteridine reductase defi- cient form |
| 先天性转运障碍症 | congenital disorder of transport |
| 血红蛋白病 | hemoglobinopathy |
| 先证者 | proband |
| 风险胎儿 | fetus at risk |
| 孕早期产前诊断 | first trimester prenatal diagnosis |
| 基因诊断 | gene diagnosis |
| 母系遗传 | maternal inheritance |
| 遗传病筛查 | genetic screening |
| 遗传疾病 | genetic diseases |
| 威斯科特-奥尔德里奇综合征 | Wiskott-Aldrich syndrome |
| 胎儿风疹综合征 | fetal rubella syndrome |
| 基因频率 | gene frequency |
| 互斥相 | repulsion phase |
| 复等位基因 | multiple alleles |
| 颠换 | transversion |
| 引发体 | primosome |
| 基因间序列 | intergenic sequence |
| 黏性末端 | cohesive end |
| 等位基因连锁分析 | allele linkage analysis |
| DNA指纹图 | DNA fingerprint |
| 化学发光自显影 | chemiluminescent autography |
| 遗传背景 | genetic background |
| 数量性状 | quantitative trait |
| 二分体 | dyad |
| 异染色质 | heterochromatin |
| 组成性异染色质 | constitutive heterochromatin |
| 鸟苷三磷酸环水解酶缺乏型 | guanosine triphosphate cyclohydro- lase deficient form |
| 6-丙酮酰四氢蝶呤合成酶缺乏型 | 6-pyruvoyl tetrahydropterin synthase deficient form |
| 黏多糖贮积症Ⅵ型 | mucopolysaccharidosis type Ⅵ |
| 单卵双生 | monozygotic twins |
| 二卵双生 | dizygotic twins |
| 髋关节脱位 | dislocation of hip joint |
| 畸形综合征 | malformation syndrome |
| 遗传性毛细血管扩张症 | hereditary telangiectasia |
| 口-面-指综合征 | oral-facial-digital syndrome |
| 尖头多指并指[畸形] | acrocephalopolysyndactyly |
| 琥珀型突变 | amber mutation |
| 肿瘤浸润淋巴细胞 | tumor infiltrating lymphocyte |
| [病毒]包膜蛋白基因 | [viral]envelope protein gene |
| 遗传漂变 | genetic drift |
| 平衡多态性 | balanced polymorphism |
| 选择优势 | selection advantage |
| 基因固定 | fixation of gene |
| 指纹法 | fingerprinting |
| 夹心杂交 | sandwich hybridization |
| 进化遗传学 | evolutionary genetics |
| 群体遗传学 | population genetics |
| 行为遗传学 | behavioral genetics |
| 肿瘤遗传学 | tumor genetics |
| 数量遗传学 | quantitative genetics |
| 生统遗传学 | biometrical genetics |
| 微细胞遗传学 | microcytogenetics |
| 神经遗传学 | neurogenetics |
| 优生学 | eugenics |
| 正优生学 | positive eugenics |
| 细胞遗传学 | cytogenetics |
| 体细胞遗传学 | somatic cell genetics |
| 纯合子 | homozygote |
| 杂合子 | heterozygote |
| 双重杂合子 | double heterozygote |
| 复合杂合子 | compound heterozygote |
| 不完全显性 | incomplete dominance |
| 共显性 | codominance |
| 外显率 | penetrance |
| 不[完]全外显 | incomplete penetrance |
| 隔代遗传 | skipped generation |
| 表现度 | expressivity |
| 表现变异性 | variable expressivity |
| X连锁隐性 | X-linked recessive |
| 连锁相 | linkage phase |
| 细胞周期 | cell cycle |
| 次级精母细胞 | secondary spermatocyte |
| 精细胞 | spermatid |
| 三倍体 | triploid |
| 单倍体组 | haploid set |
| 单倍体数 | haploid number |
| 三体性 | trisomy |
| 单体性 | monosomy |
| 多体性 | polysomy |
| 超雌 | superfemale |
| 结构畸变 | structural aberration |
| 染色体重排 | chromosome rearrangement |
| 双着丝粒染色体 | dicentric chromosome |
| 假双着丝粒染色体 | pseudodicentric chromosome |
| 亚中着丝粒染色体 | submetacentric chromosome |
| 近端着丝粒染色体 | acrocentric chromosome |
| 复杂易位 | complex translocation |
| 异源嵌合体 | chimera |
| 重建 | restitution |
| 移位 | shift |
| 插入 | insertion |
| 新生易位 | de novo translocation |
| 随体 | satellite |
| 假两性畸形 | pseudohermaphroditism |
| 染色体显带技术 | chromosome banding technique |
| 断片定位[法] | fragmentation mapping |
| 同步化 | synchronization |
| 短期培养 | short term culture |
| 染色体断裂综合征 | chromosome breakage syndrome |
| 轴三叉 | axial triradius |
| 指三叉 | digital triradius |
| 高分辨显带 | high resolution banding |
| 反带 | reverse banding |
| 表型定位[法] | phenotype mapping |
| 半乳糖血症 | galactosemia |
| 戊糖尿症 | pentosuria |
| 氨基酸代谢病 | aminoacidopathy |
| 格思里试验 | Guthrie test |
| 苯丙酮尿症 | phenylketonuria |
| 高苯丙氨酸血症 | hyperphenylalaninemia |
| 支链氨基酸代谢病 | disorder of branched chain amino- acid metabolism |
| 肌氨酸血症 | sarcosinemia |
| 先天性高氨血症 | congenital hyperammonemia |
| 精氨基琥珀酸合成酶缺乏症 | argininosuccinic acid synthetase deficiency |
| 精氨酸酶缺乏症 | arginase deficiency |
| 有机酸血症 | organic acidemia |
| 有机酸尿症 | organic aciduria |
| 尿黑酸尿症 | alcaptonuria |
| 腺苷脱氨酶缺乏症 | adenosine deaminase deficiency |
| 组氨酸血症 | histidinemia |
| 氨酰基脯氨酸二肽酶缺乏症 | prolidase deficiency |
| 黏多糖贮积症Ⅱ型 | mucopolysaccharidosis type Ⅱ |
| 黏多糖贮积症Ⅲ型 | mucopolysaccharidosis type Ⅲ |
| 黏多糖贮积症ⅢA型 | mucopolysaccharidosis type ⅢA |
| 黏多糖贮积症Ⅳ型 | mucopolysaccharidosis typeⅣ |
| 黏多糖贮积症ⅣA型 | mucopolysaccharidosis type ⅣA |
| 黏多糖贮积症ⅣB型 | mucopolysaccharidosis type ⅣB |
| 涎酸贮积症 | sialidosis |
| 过氧化物酶体病 | peroxisomal disease |
| 肝豆状核变性 | hepatolenticular degeneration |
| 脑肝肾综合征 | cerebrohepatorenal syndrome |
| 肾上腺脑白质营养不良 | adrenoleukodystrophy |
| 维生素D依赖性佝偻病Ⅰ型 | Vitamin D dependent rickets type Ⅰ |
| 同胞 | sib |
| 同胞群 | sibship |
| 新生儿筛查 | newborn screening |
| 杂合子筛查 | heterozygote screening |
| 先天性疾病 | congenital diseases |
| 大角膜 | macrocornea |
| 畸形足 | clubfoot |
| 马蹄内翻足 | talipes equinovarus |
| 蜘蛛样指 | arachnodactyly |
| 图距单位 | map unit |
| 颅骨锁骨发育不良 | cleidocranial dysostosis |
| 指甲髌骨综合征 | nail-patella syndrome |
| 斯蒂克勒综合征 | Stickler syndrome |
| 窒息性胸廓发育不良 | asphyxiating thoracic dysplasia |
| 多发性外生骨疣 | multiple exostosis |
| 克鲁宗综合征 | Crouzon syndrome |
| 马方综合征 | Marfan syndrome |
| 鱼鳞病 | ichthyosis |
| 色素失调症 | incontinentia pigmenti |
| 德乔治序列征 | DiGeorge sequence |
| 羊膜早破畸形谱 | early amnion rupture spectrum |
| VATER联合征 | VATER association |
| 范科尼全血细胞减少综合征 | Fanconi pancytopenia syndrome |
| 镰状细胞贫血 | sickle cell anemia |
| 斑点状钙化软骨发育不良 | chondrodysplasia calcificans punctata |
| 羊膜带综合征 | amniotic band syndrome |
| 胎儿酒精综合征 | fetal alcohol syndrome |
| 胎儿反应停综合征 | fetal thalidomide syndrome |
| 胎儿巨细胞病毒综合征 | fetal cytomegalovirus syndrome |
| 胎儿弓形体感染综合征 | fetal toxoplasmosis syndrome |
| 巴氏胎儿水肿综合征 | Bart hydrops fetalis syndrome |
| 毛细血管扩张性共济失调综合征 | ataxia-telangiectasia syndrome |
| 亨廷顿舞蹈症 | Huntington chorea |
| 结节性硬化症 | tuberous sclerosis |
| 位点 | site |
| 基因座 | locus |
| 基因定位 | gene mapping |
| 体细胞杂种 | somatic cell hybrid |
| 图距 | map distance |
| 互引相 | coupling phase |
| 遗传标记 | genetic marker |
| 后随链 | lagging strand |
| 割裂基因 | split gene |
| 全色盲 | achromatopsia |
| 致畸原 | teratogen |
| 转基因动物 | transgenic animal |
| 互补DNA | complementary DNA |
| 重复DNA | repetitive DNA |
| 通用密码 | universal code |
| 转导 | transduction |
| 转录起始位点 | transcriptional start site |
| 加帽位点 | cap site |
| 给位 | donor site |
| 受位 | acceptor site |
| 剪接 | splicing |
| 编码区 | coding region |
| 转录因子 | transcriptional factor |
| 顺式作用元件 | cis-acting element |
| 基序 | motif |
| 扩增 | amplification |
| 转化 | transformation |
| 显性负效应 | dominant negative effect |
| 真核细胞 | eukaryotic cell |
| 非放射性[基因]探针 | nonradioactive probe |
| 酶标记探针 | enzyme-labelled probe |
| 内源基因 | endogenous gene |
| 外源基因 | exogenous gene |
| 解链温度 | melting temperature |
| RNA印迹法 | Northern blotting |
| 基因座连锁分析 | locus linkage analysis |
| 限制性[内切酶]片段长度多态性 | restriction fragment length polymorphism |
| 变数串联重复 | variable number of tandem repeat |
| 等位片段 | allele |
| 多重PCR | multiplex PCR |
| 多态性信息含量 | polymorphism information content |
| 放射自显影 | autoradiography |
| 移码突变 | frameshift mutation |
| [DNA]变性 | denaturation |
| 抗肌萎缩蛋白 | dystrophin |
| 原纤维蛋白 | fibrillin |
| 珠蛋白基因簇 | globin gene cluster |
| 脉冲场凝胶电泳 | pulsed field gel electrophoresis |
| 微注射 | microinjection |
| 随机整合 | random integration |
| 短暂表达 | transient expression |
| 穿梭载体 | shuttle vector |
| 反义寡核苷酸 | antisense oligonucleotide |
| [病毒]类特异抗原基因 | [viral]group-specific antigen gene |
| 遗传距离 | genetic distance |
| 同胞配对法 | sib-pair method |
| 类固醇21-羟化酶缺乏症 | steroid 21-hydroxylase deficiency |
| 家族性低磷酸血症佝偻病 | familial hypophosphatemic rickets |
| 神经皮肤黑色素痣序列征 | neurocutaneous melanosis sequence |
| 面肩肱型肌营养不良 | facio scapulo humeral type muscu-lar dystrophy |
| 卵子 | ovum |
| 基因组DNA | genomic DNA |
| 等位基因特异的寡核苷酸探针 | allele-specific oligonucleotide probe |
| 多基因遗传 | polygenic inheritance |
| 人类分子遗传学 | human molecular genetics |
| 人类群体遗传学 | human population genetics |
| 人类细胞遗传学 | human cytogenetics |
| 人类生化遗传学 | human biochemical genetics |
| 遗传性酶病 | hereditary enzympathy |
| 家族性癌 | familial carcinoma |
| 癌家族 | cancer family |
| 18-三体综合征 | Edwards's syndrome |
