|
索引
A
| α-fetoprotein |
甲胎蛋白 |
133 |
| α-thalassemia |
甲型地中海贫血 |
64 |
| abnormal hemoglobin |
异常血红蛋白 |
61 |
| ABO blood group |
ABO血型 |
50 |
| acetyl-transferase |
乙酰化酶 |
11 |
| acetylcholine esterase |
乙酰胆碱酯酶 |
133 |
| achromatopsia |
全色盲 |
53 |
| additive effect |
累积效应 |
83 |
| addittive gene |
累加基因 |
83 |
| adenine |
腺嘌呤 |
34 |
| adenosine deaminase |
腺苷脱氨酶 |
46 |
| adenovirus-polylysine DNA-complex |
腺病毒多赖氨酸DNA复合体 |
169 |
| adult polycystic kidney diseade(APKD) |
成人多囊肾病 |
166 |
| affinity banding agent |
亲和结合剂 |
143 |
| agammaglobinemia |
无丙球蛋白血症 |
67 |
| albinism |
白化病 |
52,77 |
| alcohol dehydrogenase |
乙醇脱氢酶 |
115 |
| aldehyde dehydrogenase |
乙醛脱氢酶 |
115 |
| allele specific oligonucleotide |
等位特异性寡核苷酸 |
162 |
| α-globin gene cluster |
α珠蛋白基因簇 |
60 |
| allopurinol |
别嘌呤醇 |
143 |
| alpecia,hereditary |
遗传性早秃 |
55 |
| alpha-thalassemia |
α地中海贫血 |
64,164 |
| Alu family Alu |
家族 |
41 |
| amniocentasis |
羊膜穿刺 |
131 |
| Amp-FLP |
扩增片段长度多态性 |
162 |
| amplification |
扩增 |
161 |
| amplified fragment length polymorphism |
扩增片段长度多态性 |
162 |
| anaphase lag |
后期迟留 |
14 |
| ankyrin |
锚蛋白 |
70 |
| aneuploidy |
非整倍性,异倍性 |
13 |
| angiotensin converting enzting enzyme |
血管紧张素转化酶 |
|
| angiotensinⅡ |
血管紧张素Ⅱ |
87 |
| angiotensinogen |
血管紧张素原 |
87 |
| antenatal diagnosis |
出生前诊断 |
130 |
| antihemophilic globulin |
抗血友病球蛋白 |
72 |
| antioncogene |
抗癌基因 |
125 |
| antiparallel |
反向平行排列 |
14 |
| antisense strand |
反义链 |
36 |
| antisense oligdeoxynucleotide |
反义寡核苷酸 |
167 |
| antisense technology |
反义技术 |
167 |
| antithrombin Ⅲ deficiency |
抗凝血酶Ⅲ缺乏症 |
73 |
| α-antitrypsin |
α-抗胰蛋白酶 |
116 |
| arch |
弓形纹 |
134 |
| arch,tented loop |
蓬账弓形纹 |
134 |
| arylhdrocarbon hydroxylase |
芳烃羟化酶 |
116,120 |
| ASO |
等位特异性寡核苷酸 |
162,165 |
| association |
关联 |
6 |
| ataxia telangiectasia,AT |
毛细血管扩张性共济显性遗传 |
119 |
| autosomal dominance inheritance |
常染色体显性遗传 |
49 |
| recessive inheritance |
常染色体显性遗传 |
52 |
| axial triradius |
轴三叉 |
135 |
| 5′-azocytidine |
5氮胞苷 |
167 |
B
| balanced franslocation |
平衡易位 |
16 |
| Barts hydrops fetalis Barts |
水肿胎, Barts胎尔水肿综合征 |
64 |
| basal cell nevus syndrome |
基底细胞痣 |
118 |
| Becker′s muscular dystrophy |
轻型假肥大型肌营养不良 |
71 |
| β-globin gene cluste |
β珠蛋白因簇 |
60 |
| β-thalassemia |
β地中海贫血 |
65 |
| Bloom′s syndrome Bloom′s |
综合征 |
19,119 |
| blunt terminus |
平整末端 |
157 |
| brachydactyly |
短指症 |
49,86 |
| break point cluster region |
断点簇区 |
122 |
| breakage |
断裂 |
14 |
| brnachitis,chronic |
慢性支气管炎 |
115 |
| bronchial asthma |
支气管哮喘 |
115 |
| Burkitt lymphoma |
非洲恶性淋巴瘤 |
122 |
C
| CAAT box CAAT |
框(盒) |
32 |
| calitonin |
降钙素 |
39 |
| calcitonin gene related pepitde |
降钙素基因相关肽 |
39 |
| cancer genetics |
肿瘤遗传学 |
2,117 |
| cancer family |
癌家族 |
117 |
| candidate gene approach |
侯选基因方法 |
109 |
| carcinogenesis |
致癌 |
1 |
| caucinoma,familial |
家族性癌 |
117 |
| carrier,genetic |
遗传携带者 |
52,139 |
| obligatory |
肯定携带者 |
52 |
| probable |
可能携带者 |
52 |
| cDNA probe |
探针 |
155 |
| cell fusion |
细胞融合 |
104 |
| character |
着丝粒融合 |
16 |
| chimetic minigene |
性状 |
1 |
| cholestyamine |
嵌合小基因 |
173 |
| chorionic villi aspiration sampling |
消但胺 |
143 |
| chromosomal disease |
绒毛取样 |
132 |
| assignment |
染色体病 |
9,10,20 |
| aberration |
染色体定位 |
130 |
| loss |
染色体畸变 |
20,43 |
| chronic bronchitis |
染色体丢失 |
14 |
| obstractive pulmonary disease |
慢性支气管炎 |
115 |
| clastogen |
慢性阻塞性肺疾患 |
115 |
| cliical genetics |
断裂剂 |
14,138 |
| clone panel method |
临床遗传学 |
1 |
| clnidene |
克隆嵌板法 |
105 |
| coding strand |
可乐定 |
30 |
| co-dominance |
编码链 |
36 |
| codon deletion |
共显性 |
50 |
| codon insertion |
整码缺失 |
45 |
| cohesive termius |
密码子插入 |
45 |
| complemetn deficiency |
粘性末端 |
157 |
| complete androgen insensitivity syndrome |
补体缺乏症 |
69 |
| complete dominance |
雄性素全不敏感综合征 |
75 |
| complex genetic disease |
完全显性 |
49 |
| componet analysis |
复杂性遗传病 |
84 |
| concordance |
疾病组分分析 |
6 |
| condensation |
一致率,同病率 |
5 |
| conditional probability |
凝缩,固缩 |
10 |
| congenital |
条件概率 |
147 |
| pancytopenia |
先天性 |
|
| disease |
先天性全血细胞减少症 |
119 |
| anomaly |
先天性疾病 |
8 |
| anomaly |
先天畸形 |
8 |
| absence of one kidney |
先天性单测肾缺如 |
86 |
| deficiency of activated protein C inhibitor |
先天性活化蛋白C抑制物缺乏症 |
74 |
| heart defect |
先天性心脏缺陷 |
86 |
| malformation |
先天畸形 |
84 |
| consanguineous marrige |
近亲婚配 |
96 |
| consensus sequence |
一致顺序 |
32 |
| cordocentasis |
脐血抽吸 |
132 |
| coronary artery diseace |
冠心病 |
87 |
| counselee |
咨询者 |
145 |
| counseling,genetic |
遗传咨询 |
145 |
| counselor |
咨询医生 |
145 |
| criss-cross inheritance |
交叉遗传 |
53 |
| cryptic splicing site |
隐蔽裂解位点 |
69 |
| cystic fibrosis |
囊性纤维化 |
59 |
| cytogenetic map |
细胞遗传图 |
103 |
| cytogenetics |
细胞遗传学 |
1 |
| cytosine deaminase |
胞嘧啶脱氨酶 |
172 |
| cytosine |
胞嘧啶 |
34 |
D
| deafness |
耳聋 |
57 |
| defective virus |
缺陷型病毒 |
167 |
| deletion |
缺失 |
15,65 |
| interstitial |
中间缺失 |
15 |
| delayed dominance |
延迟显性 |
51 |
| de novo |
新发生的 |
23 |
| deoxyribose |
脱氧核糖 |
34 |
| dermatoglyphy |
皮纹,皮肤纹理 |
134 |
| desferrioxamine |
去铁胺 |
134 |
| developmental genetics |
发育遗传学 |
2 |
| deabetes mellitus |
糖尿病 |
75,87 |
| deagnosis of hereditary diseade |
遗传病的诊断 |
128 |
| diagnosis,gene |
基因诊断 |
155 |
| digital flexion crease |
指褶线 |
155 |
| discontineous gene |
不连接基因 |
32 |
| dizygotic twin |
异卵双生 |
5 |
| DNA viral mediated vector |
DNA病毒介导载体 |
169 |
| DNA polymeraseⅠ |
DNA聚合酶Ⅰ |
156 |
| dominant inheritance |
显性遗传 |
49 |
| gene |
显性基因 |
49 |
| dosage compensation |
剂量补偿 |
26 |
| double minute |
双微体 |
125 |
| double loop whorl |
双箕斗 |
134 |
| Down′syndrome |
先天愚型,唐氏综合征 |
22 |
| drug targeting |
药物靶向 |
172 |
| Duchenne muscular dystrophy |
假肥大型肌营养不良 |
31,71,108 |
| Duffy′s blood type Duffy |
血型 |
103 |
| duplication |
重复 |
18,71 |
| dyschromatopsia of the protan and deutan |
红绿色盲 |
53,57 |
| dysmorphology |
畸形学 |
8 |
| dystrophin |
肌营养不良蛋白,抗肌萎缩蛋白 |
71,108 |
E
| ecogenetics |
生态遗传学 |
115 |
| Edward′s formula Edward |
公式 |
89 |
| Edward′s syndrome Edward |
综合征,18在体型 |
24 |
| electroporotion |
电穿孔 |
168 |
| elliptocytosis |
椭圆形细胞增多症 |
70 |
| empiric risk rate |
经验风险率 |
151 |
| endonuclease, restriction |
限制性内切酶 |
156 |
| endoreduplication |
核内复制 |
13 |
| enhancer |
增强子 |
32 |
| enzyme transplantation |
酶移植 |
141 |
| enzymopathy |
酶病 |
2,75 |
| epilepsy |
癫痫 |
153 |
| equilibrium depletion |
平衡消除法 |
143 |
| eugenics, preventive |
预防性优生学 |
137 |
| eugenics |
优生学 |
2,137 |
| negative |
负优生学 |
137 |
| positive |
正优生学 |
137 |
| pregressive |
演进性优生学 |
137 |
| euthenics |
优境学 |
137 |
| exon |
外显子 |
32 |
| exon trapping |
外显子捕获 |
3 |
| eapressivity |
表现度 |
51 |
F
| facilited diffusion |
易化扩散 |
71 |
| familial polyposis coli |
家族性多发性息肉 |
118 |
| carcioma |
家族性癌 |
117 |
| disease |
家族性疾病 |
8 |
| Fanconi anemia Fanconi |
贫血,先天性全血细胞减少症 |
119 |
| fertility |
生育率 |
94 |
| fetoscope |
胎(儿)镜 |
131 |
| finger tip patterns |
指纹类型 |
134 |
| FISH |
荧光原位杂交 |
106 |
| fitness |
适合度 |
94 |
| flanking sequence |
侧翼顺序 |
2 |
| fluorenscence in situ hybridization |
荧光原位杂交 |
106 |
| 5′fluorocytosine |
5′-氟胞嘧啶 |
172 |
| 5′fluorouracil |
5′氟尿嘧啶 |
172 |
| form fruste |
顿挫型 |
52 |
| forward mutation |
正向突变 |
93 |
| founder effer |
建立者效应 |
101 |
| fragile site |
脆性部位 |
29,123 |
| fragile X syndrome |
脆性X综合征 |
29 |
| full mutation |
全突变 |
30 |
| functional cloning |
功能克隆 |
108 |
| furrow |
沟 |
134 |
| fusion gene |
融合基因 |
64 |
G
| galactokinase |
半乳糖激酶 |
77 |
| galactosemia |
半乳糖血症 |
76 |
| galactose-phosphate uridyl transferase |
半乳糖-1-磷酸尿苷转移酶 |
76 |
| G6PD deficency |
葡糖6-磷酸脱氢酶缺乏症 |
112 |
| GC box GC |
框(盒) |
32 |
| gene dosage effect |
基因剂量效应 |
76 |
| gene |
基因 |
71 |
| therapy |
基因疗法 |
167 |
| expression |
基因表达 |
36 |
| cluster |
基因簇 |
41 |
| cloning |
基因克隆 |
108 |
| frequency |
基因频率 |
91 |
| transfer |
基因转移 |
168 |
| flow |
基因流 |
102 |
| fusion |
融合基因 |
64 |
| diagnosis |
基因诊断 |
3,130,155 |
| location |
基因定位 |
103 |
| map |
基因图 |
103 |
| family |
基因家族 |
41 |
| control |
控制基因 |
31 |
| discontinuous |
不连续基因 |
32 |
| enhancer |
增强基因 |
32,51 |
| interrupted |
不连续基因 |
32 |
| minor |
微效基因 |
87 |
| modiffier |
修饰基因 |
51 |
| pool |
基因库 |
91 |
| reduced |
减弱基因 |
51 |
| regulator |
调节基因 |
31 |
| ribosomal RNA |
核糖体RNA基因 |
31 |
| structural |
结构基因 |
31 |
| genetic |
|
|
| counseling |
遗传咨询 |
145 |
| engineering |
基因工程 |
2 |
| load |
遗传负荷 |
96 |
| drift |
遗传漂交 |
101 |
| mapping |
遗传制图 |
103 |
| episemiology |
遗传流行病学 |
1,91 |
| drift,random |
随机遗传漂交 |
101 |
| disease |
遗传病 |
7 |
| imprinting |
遗传印记 |
59 |
| toxicology |
遗传毒理学 |
1 |
| susceptibility |
遗传易感性 |
47 |
| polymorphism |
遗传多态性(现象) |
80 |
| genetics of behavior |
行为遗传学 |
2 |
| gene,transfer RNA |
转动RNA基因 |
31 |
| genic disease |
基因病 |
9 |
| genome |
基因组 |
40 |
| genomic imprinting |
基因组印记 |
59 |
| genomic probe |
基因组探针 |
155 |
| genotype |
基因型,遗传型 |
49 |
| gneotype frequency |
基因型频率 |
91 |
| germ cell gene therapy |
生殖细胞基因治疗 |
167 |
| glucose-6-phosphatase |
葡糖6-磷酸酶 |
71 |
| glucose-6-phosphate dehydrogenase |
葡糖6-磷酸脱氢酶 |
112 |
| glycogen storage disease |
糖原贮积病 |
77 |
| glcophorin |
血型糖蛋白 |
70 |
| gout |
痛风 |
79 |
| guanine |
鸟嘌呤 |
34 |
H
| hallical area |
拇指球部 |
135 |
| haptoglobin |
结合珠蛋白 |
80 |
| Hardy-Weinbery law |
遗传平衡定律 |
92 |
| heart defcet,congnital |
先天性心脏缺损 |
86 |
| Hb Lepore |
血红蛋白Lepore |
34 |
| Hb M disease |
血红蛋白M病 |
32 |
| hemizyote |
半合子 |
53 |
| Heinz′s body |
变性珠蛋白小体 |
62,113 |
| hemoglobinpathy |
血红蛋白病 |
39 |
| hemophilia A |
甲型血友病 |
57,72 |
| B |
乙型血友病 |
73 |
| C |
丙型血友病 |
73 |
| hematochromatosis |
血色病 |
8,55 |
| hereditary diease |
遗传性疾病,遗传病 |
7 |
| persistance of fetal hemoglobin |
遗传性胎儿血红蛋白持续增高症 |
66 |
| heritability |
遗传率(度) |
85 |
| heterogeneity |
遗传异质性 |
57 |
| heterogenuous nucleaar RNA |
核内异质RNA |
36 |
| heteromorphism |
异态性 |
20,80 |
| heterozygote |
杂合子 |
49 |
| high resolution banding |
高分辩显带染色体 |
13 |
| highly repetitive sequence |
高度重复顺序 |
41 |
| HLA |
人类白细胞抗原 |
55 |
| holandric inheritance |
限雄遗传 |
55 |
| homgeneously staining region |
均染区 |
125 |
| homologous recombination |
同源重组 |
118 |
| homozygote |
纯合子 |
49 |
| horizontal transmission |
水平传递 |
8 |
| HUGO |
人类基因组(国际)组织 |
109 |
| human genetics |
人类遗传学 |
1 |
| cytogenetics |
人类细胞遗传学 |
1 |
| genomw Mapping |
人类基因组制图 |
3,103 |
| Genome organization |
人类基因组(国际)组织 |
109 |
| genome project |
人类基因计划 |
3,109 |
| genetic diversity Project |
人类遗传多样性计划 |
109 |
| genome mapping |
人类基因组制图 |
103 |
| biochemical genetics |
人类生化遗传学 |
1 |
| leucocyte antigen |
人类白细胞抗原 |
6,51 |
| Huntington′s chorea |
慢性进行性舞蹈病 |
51,108,148 |
| hybrid cell |
杂种细胞 |
104 |
| hydrometrocelops |
子宫阴道积水 |
56 |
| hyperaneuploid |
高异倍体 |
121 |
| hypercholesterolemia, familial |
家簇性高胆固醇血症 |
74 |
| hyperdiploid |
超二倍体 |
121 |
| hyperphenylalaninemia |
高苯丙氨酸血症 |
78 |
| hypertension |
高血压病 |
87 |
| hypervariable region |
高变区 |
166 |
| hypodiploid |
亚二倍体 |
121 |
| hypogammaglobulinemia |
低丙球蛋白血症 |
68 |
| hypoxanthine-guanine-phosphoribosyl transferase |
次黄嘌呤鸟嘌呤磷酸核糖转移酶 |
79 |
I
| idiogram |
组型,模式图 |
10 |
| idiosyncracy |
特应性 |
111 |
| immune surveillance |
免疫监视 |
120 |
| immunodeficiency |
免疫缺陷病 |
67 |
| immunogenetics |
免疫遗传学 |
1 |
| in situ hybridization,fluorescence |
荧光原位杂交 |
106 |
| in situ hybridization |
原位杂交 |
105 |
| inborn error of metabolism |
先天性代谢病 |
2 |
| inbreeding coefficinet |
近婚系数 |
97 |
| inbreeding |
近亲结婚 |
97 |
| incomplete dominace |
不完全显性 |
50 |
| inherited disease |
遗传病 |
7 |
| insertion |
插入 |
17 |
| insulin |
胰岛素 |
32 |
| integrin |
整合素 |
126 |
| interchromosomal translocation |
染色体间易位 |
16 |
| intrachromosomal translocation |
染色体内易位 |
16 |
| interstitial deletion |
中间缺失 |
15 |
| intervening sequence |
插入顺序 |
32 |
| intron |
内含子 |
32 |
| inversion |
倒位 |
16 |
| irregular domiannce |
不规则显性 |
55 |
| ISCN |
人类细胞遗传学命名国际体制 |
13 |
| isochromosome |
等臂染色体 |
15 |
| isoenzyme |
同工酶 |
81 |
| isoniazid |
异烟肼 |
111 |
| isozyme |
同工酶 |
81 |
K
| karyotype |
核型 |
10 |
| karyotype analysis |
核型分析 |
129 |
| Klinefelter syndrome Klinefelter |
综合征,先天性睾丸发育不全 |
27 |
| KpnI family KpnI |
家族 |
41 |
L
| Lac operon hypothesis |
乳糖操纵子假说 |
46 |
| lactic dehydrogenase |
乳酸脱氢酶 |
81 |
| LDL receptor |
低密度脂蛋白受体 |
75 |
| leaky gene |
漏出基因 |
45 |
| Leber′s hereditary optic neuropathy,LHOH |
遗传视神经病 |
43,58 |
| Lesch-Nyhan syndrome |
自毁容貌综合征 |
79 |
| liability |
易患性 |
84 |
| linkage |
连锁 |
6 |
| liposome |
脂质体 |
142,168 |
| loop, radial |
桡箕 |
134 |
| loop,ulner |
尺箕 |
134 |
| loss of heterozygosity(LOG) |
杂合性丢失 |
126 |
| low density lipoprotein(LDL) |
低密度脂蛋白 |
75 |
| Lyon′s hypotheis Lyon |
假说,X失活假说 |
26 |
| lysine chain |
赖氨酸链 |
169 |
M
| major histocompatibility complex |
主要组织相容性抗原复全体 |
82 |
| malformation, congenital |
先天畸形 |
8 |
| malignant melanoma |
恶性黑色素瘤 |
118 |
| maple syrup urine disease |
枫糖尿病 |
80 |
| mapping |
制图 |
109 |
| marker chromosome |
标记染色体 |
121 |
| materal inheritance |
母系染色体 |
58 |
| medical geneics |
医学遗传学 |
1 |
| melanosome |
黑素小体 |
77 |
| membrane diseases |
膜蛋白病 |
69 |
| skeleton |
膜骨架 |
70 |
| mental retardation |
智力低下,智能发育不全 |
22,151 |
| metabolic inhibitor |
代谢抑制剂 |
143 |
| metabolic suppressor gene |
肿瘤转移抑制基因 |
|
| gene |
肿瘤转移基因 |
3,116 |
| micro cell |
微细胞 |
105 |
| micodessection |
显微切割 |
2 |
| micrognathia |
小颌 |
25 |
| microinjection |
显微注射 |
168 |
| migration pressure |
迁移压力 |
102 |
| migration |
迁移 |
102 |
| minidystrophin |
小肌营养不良蛋白 |
170,172 |
| minor gene |
微效基因 |
83 |
| mis-paires synapsis |
错配联会 |
46 |
| mitochondrial DNA |
线粒体DNA |
42,58 |
| model number |
众数 |
121 |
| moderative repetitive sequence |
中度重复顺序 |
41 |
| molecular genetics |
分子遗传学 |
1 |
| cloning |
分子克隆 |
155 |
| disease |
分子病 |
2,59 |
| monogenic disease |
单基因病 |
4,48 |
| monogenic form of multifatorial disease |
多因子病的单基因型 |
88 |
| monosomy |
单体性 |
13 |
| monozygotic twin |
单卵双生,同卵双生 |
5 |
| mosaic |
嵌合体,同源嵌合体 |
14 |
| multidisease screening technique |
多病性筛查技术 |
141 |
| multifactorial inheritance |
多因子遗传 |
83 |
| multiple alleles |
复等位基因 |
50 |
| mulitiple loci determining isozyme |
多座位同工酶 |
81 |
| murine leukemia virus |
鼠白血病病毒 |
169 |
| mutagen |
诱变剂 |
43,138 |
| mutagenesis |
诱变,致(突)变 |
1 |
| mutant |
突变本 |
43 |
| mutation |
突变 |
43 |
| mutation load |
突变负荷 |
696 |
| rate |
突变率 |
93 |
| neutral |
中性突变 |
45 |
| presure |
突变压力 |
94 |
| codon |
整码突变 |
45 |
| elongation |
延长突变 |
43 |
| forward |
正向突变 |
93 |
| frame-shift |
移码突变 |
45 |
| gene |
基因突变 |
43 |
| hot spot of |
突变热点 |
43 |
| induced |
诱发突变 |
43 |
| mis-sens |
错义突变 |
44 |
| neutral |
中性突变 |
45,93 |
| non-sense |
无义突变 |
45 |
| point |
点突变 |
43 |
| reverse |
回复突变 |
93 |
| same sence |
同义突变 |
44 |
| spontaneous |
自然突变,自发突变 |
43 |
| suppressor gene |
抑制基因突变 |
45 |
| synonymous |
同义突变 |
44 |
| termination codon |
终止密码突变 |
45 |
N
| neonatal screening |
新生儿筛查 |
140 |
| nephroblastoma |
肾母细胞瘤 |
119 |
| nephrogenic diabetes insipidus |
肾性尿崩症 |
75 |
| neuro-tube defect |
神经管缺陷 |
133 |
| neuroblastoma |
神经母细胞瘤 |
119 |
| neurofibromatosis |
多发性神经纤维瘤病 |
118 |
| neutral mutaiton |
中性突变 |
45 |
| nick translation |
缺口平移法,缺口翻译 |
156 |
| non-disjunction |
不分离 |
14 |
| nucleic acid |
核酸 |
34 |
| nucleotide |
核苷酸 |
34 |
O
| obligatory carrier |
肯定携带者 |
52 |
| oncogene |
癌基因 |
3,123 |
| operon |
操纵子 |
46 |
| overproduction disease |
生产过剩症 |
80 |
P
| palmal flexion crease |
掌褶线 |
135 |
| palmar print |
掌纹 |
|
| paracentric inversion |
臂内倒位 |
|
| Patau′s syndrome Patau |
综合征,13三体性 |
|
| PCR |
聚合酶链反应 |
|
| penetrance |
外显率 |
|
| penicillamine |
青霉胺 |
|
| pericertric inversion |
臂间倒位 |
16 |
| peripheral membrane protein |
外周膜蛋白 |
70 |
| pharmacogenetics |
药物遗传学 |
1,111 |
| phenotype |
表现型,表型 |
49 |
| phenylalanine ammonialyase |
苯丙酸氨基水解酶 |
142 |
| phenylalanine hyroxylase |
苯丙氨酸羟化酶 |
78 |
| phenylketouria |
苯酮尿症 |
78 |
| phosphoglucomutase |
磷酸葡萄变位酶 |
81 |
| phosphoribosyi pyrophosphate synthetase |
磷酸核糖焦磷酸合成酶 |
80 |
| physical mapping |
物理图谱 |
103 |
| physical map |
物理图 |
103 |
| placental aldaline phosphatase |
胎盘碱性磷酸酶 |
81 |
| plasmapheresis |
血浆过滤 |
143 |
| plasma thromboplastic antecedent(PTA)deficiency |
丙型血友病 |
73 |
| plasma thromboplastic component(PTA)deficiency |
乙型血友病 |
73 |
| point mutation |
点突变 |
43 |
| point polymorphism |
点多态 |
158 |
| polygenic disease |
多基因病 |
9,84 |
| inheritance |
多基因遗传 |
9,83 |
| disease |
多基因病 |
9 |
| polymerase Ⅰ,DNA |
DNA聚合酶Ⅰ |
156 |
| polymerase chain reaction |
聚合酶链反应 |
161 |
| polymorphism,amplified fragment length |
扩增片段长度多态性 |
162 |
| polymorphism |
多态性,多态现象 |
20,80 |
| balanced |
平衡多态 |
96 |
| sinqle strand conformation |
单链构象多态 |
162 |
| polyneutitis |
多发性神经炎 |
112 |
| polyploidy |
多倍性 |
13 |
| polyprotein |
多蛋白质 |
38 |
| population |
群体 |
91 |
| genetics |
群体遗传学 |
1,91 |
| cytogenetics |
群体细胞遗传学 |
1 |
| porphyrias |
血卟啉症 |
114 |
| positional cloning |
位置克隆 |
3,108 |
| post-zygotic |
合子后 |
23 |
| posterior probability |
后概率 |
147 |
| post-transitional isozyme |
翻译后同工酶 |
81 |
| posttranslational processing |
翻译后修饰,翻译后加工 |
38 |
| pre-mRNA |
前信息核糖核酸 |
36 |
| predisposing gene |
易感基因 |
120 |
| pre-implantation diagnosis |
植入前诊断 |
132 |
| premutation |
前突变 |
30 |
| prenatal diagnosis |
产前诊断 |
3,130 |
| primer |
引物 |
161 |
| prior probability |
前概率 |
147 |
| probability,posterior |
后概率 |
147 |
| conditional |
条件概率 |
147 |
| prior |
前概率 |
|
| probable carrier |
可能携带者 |
52 |
| probe |
探针 |
155 |
| proinsulin |
前胰岛素 |
38 |
| pormotor |
启动子 |
32 |
| proteinase inhibitor |
蛋白酶抑制剂 |
116 |
| protein C deficiency |
蛋白C缺乏症 |
74 |
| protein S deficiency |
蛋白S缺乏症 |
74 |
| proto-oncogene |
原癌基因 |
41,124 |
| pseudocholine esterase |
假胆碱酯酶 |
111 |
| pseudogene |
假基因 |
41 |
| pyropoikilocytosis |
热异形细胞增多症 |
71 |
q
| qualitative model |
质量模 |
125 |
| qualitative character |
质量性状 |
83 |
| qualitative character |
数量性状 |
83 |
| quinacrine mustard |
喹吖因氮芥 |
10 |
R
| radial loop |
桡箕 |
134 |
| radiation genetic drift |
辐射遗传学 |
1 |
| random genetic drift |
随面遗传漂变 |
101 |
| rapid inactivator |
快灭活者 |
111 |
| receptor disease |
受体病 |
74 |
| recessive inheritance |
隐性遗传 |
|
| gene |
隐性基因 |
49 |
| reciprocal translocation |
相互易位 |
16 |
| recurrent risk |
再(复)发风险率 |
145,147 |
| regional assignment |
区域定位 |
103 |
| relaxation of selective pressure |
选择压力放松 |
95 |
| repetitive sequence |
重复顺序 |
41 |
| restriction |
|
16 |
| endonuclease |
限制性内切酶 |
71 |
| site |
限制性切点 |
157 |
| fragment length polymorphism |
限制性片段长度多态性 |
158 |
| retinitis pigmentosa |
视网膜色素变性 |
58 |
| retinoblastoma |
视网膜母细胞瘤 |
168 |
| reunion |
重接,重连 |
14 |
| reverse genetics |
逆向遗传学,反向遗传学 |
108,130 |
| diagnosis |
逆向诊断 |
130 |
| RFLP |
限制性片段长度多态性 |
158 |
| ribose |
核糖 |
34 |
| ridge count |
嵴纹数 |
134 |
| ridge |
嵴纹 |
134 |
| ring chromosome |
环形(环状)染色体 |
15 |
| RNA splicing RNA |
剪接 |
36 |
| Robertsonian translcation |
罗氏易位 |
16 |
S
| sarcolemma |
|
|
| satellite DNA |
卫星DNA |
159 |
| SCE |
姐妹染色单体交换 |
19 |
| screening technique,multidisease |
多病性筛查技术 |
141 |
| screening,neotatal |
新生儿筛查 |
140 |
| screening,pooulation |
群体筛查 |
141 |
| secodary isozyme |
次级同工酶 |
81 |
| segregatioon load |
分离负荷 |
96 |
| selection |
选择 |
94 |
| selective coefficient |
选择压力 |
94 |
| selective pressure |
选择压力 |
94 |
| self-replication |
自体复制,自身复制 |
35 |
| semi-conservative replication |
半保留复制 |
35 |
| semi-dominance |
半显性 |
50 |
| sense strand |
有义链 |
36 |
| sequencing |
测序 |
109 |
| severe combined immunodeficiency |
严重联合免疫缺陷病 |
68 |
| sex chromatin |
性染色质 |
27 |
| sex-influrencek inheritance |
从性遗传 |
55 |
| sex-limited inheritance |
限性遗传 |
55 |
| sex-linked inheritance |
性连锁遗传,伴性遗传 |
53 |
| shift |
移位 |
16 |
| shout tandenm repeats |
短串联重复顺序 |
71 |
| sickle cell anemia |
镰状(形)细胞性贫血 |
165 |
| sickle cell disease |
镰形细胞病 |
62 |
| side line |
旁系 |
121 |
| simian crease |
猿线 |
135 |
| simple whorl |
单螺纹 |
134 |
| single strand conformation polymorphism |
单链构象多态性 |
162 |
| sister chromotid exchange |
姐妹染色单体交换 |
19 |
| slow inactivator |
慢灭活者 |
111 |
| smear |
连续带谱,血片状带型 |
160 |
| somatic cell |
体细胞 |
104 |
| hybridization |
体细胞杂交 |
104 |
| genetics |
体细胞遗传学 |
1,104 |
| gene therapy |
体细胞基因治疗 |
167 |
| Southern blot Southern |
印变杂交,DNA印变杂交 |
80 |
| spectrin |
膜收缩蛋白 |
70 |
| spherocytosis |
球形细胞增多症 |
70 |
| spina bifida |
脊柱裂 |
86 |
| spontaneous mutation |
自发突变,自然突变 |
43 |
| SRY gene |
睾丸决定因子基因 |
133 |
| SSCP |
单链构象多态性 |
162 |
| stem line |
干系 |
121 |
| strychnine |
士的宁 |
143 |
| subclinical marker |
亚临床标记 |
6 |
| succinylcholine |
琥珀酰碱 |
111 |
| sucrose intolerance,congenital |
先天性蔗糖不耐受症 |
80 |
| superfemale |
超雌 |
28 |
| suxamethonium |
琥珀酰碱 |
111 |
T
| TATA box TATA |
框(盒) |
32 |
| template |
模板 |
35 |
| template strand |
模板链 |
36 |
| tented arch |
帐弓 |
134 |
| teratogen |
致畸剂 |
8,138 |
| teratogenesis |
致畸 |
1 |
| terminator |
终止子 |
54 |
| testicular ferminization syndrome |
睾丸女性化综合征 |
75 |
| testis determining factor |
睾丸决定因子 |
26 |
| thalidomide |
反应停 |
8 |
| thalassemia |
地中海贫血 |
64,65 |
| therapy,gene |
基因治疗 |
4 |
| threshold |
阈值 |
84 |
| thymine |
胸腺嘧啶 |
34 |
| total finger ridge count |
总指嵴纹数 |
134 |
| toxocogenetics |
毒理遗传学 |
1 |
| trait |
性状 |
1 |
| transcription |
转录 |
36 |
| transferrin |
运铁蛋白 |
81 |
| transgenic mice |
转基因小鼠 |
168 |
| transition |
转换 |
44 |
| transversion |
颠换 |
44 |
| transition |
翻译 |
37 |
| transversion |
易位 |
16 |
| transmembrane protein |
跨膜蛋白,整合膜蛋白 |
70 |
| transport disease |
转运病 |
71 |
| transversion |
转位 |
16 |
| triethylene tetramine dihydrochloride |
二盐酸三乙烯四胺 |
142 |
| triadius |
三叉 |
134 |
| trisomy,13 13 |
三体性Edward综合征 |
24 |
| trisomy |
三体性 |
13 |
| trisomy,13 13 |
三体性,Patau综合征 |
24 |
| trivalent |
三价体 |
16 |
| tumor necrosis factor |
肿瘤坏死因子 |
171 |
| tumor seppressor gene |
肿瘤抑制基因 |
3,124 |
| tumor infiltrating lymphocyte |
肿瘤浸润淋巴细胞 |
171 |
| Turner′s syndrome Turner |
综合征,先天性卵巢发育不全 |
27 |
| tyrosinase |
酪氨酸酶 |
77 |
U
| ulner loop |
尺箕 |
134 |
| unequal crossing-over |
不等交换 |
46 |
| uniparental disomy |
单亲二倍体 |
59 |
| unique sequence |
单一顺序 |
4 |
| unstable hemoglobinpathy |
不稳定血红蛋白病 |
62 |
| uracil |
尿嘧啶 |
34 |
V
| variable number tandem repeats |
可变串联重复顺序 |
158 |
| variants |
变异型 |
130 |
| vector |
载体 |
168 |
| vertical transmission |
垂直传递 |
8 |
| viral directed enzyme prodrug therapy |
病毒介导酶药前体治疗 |
172 |
| viral mediated gene transfer |
病毒介导转移 |
168 |
| viral vector |
病毒载体 |
169 |
| vitamin D resistant rickets |
抗维生素D佝偻病 |
34 |
| vitamin responsive hereditary disorders |
维生素反应性遗传病 |
79 |
| VNTR |
可变串联重复顺序 |
158 |
| von Gierke disease |
糖原贮病Ⅰ型 |
77 |
| von Willibrand disease |
血管性假血友病 |
73 |
| von Willibrand factor vWF |
因子 |
72 |
W
| whorl |
斗形纹 |
134 |
| double loop |
双箕斗 |
134 |
| simple |
一般斗形纹 |
134 |
| wild type |
野生型 |
43 |
| Wilms tumor |
肾母细胞瘤 |
59,119 |
X
| xanthoma |
黄瘤 |
74 |
| xeroederma pigmentosum |
着色性干皮病 |
120 |
| X-linked dominance inheritance |
X连锁显性遗传 |
54 |
| recessive inheritance |
X连锁隐性遗传 |
53 |
| XYYsyndrome XYY |
综合征 |
27 |
Y
| Y-linked inheritance |
Y连锁遗传 |
55 |
|
|
|