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 |