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医学遗传学/索引
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{{Hierarchy header}} == A== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | major histocompatibility complex | | 主要组织兼容性[[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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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 |- | | unstablehemoglobinpathy | | 不稳定血红蛋白病 | | 62 |- | | uracil | | [[尿嘧啶]] | | 34 |} == V== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | 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== {| class="wikitable" |- | | Y-linked inheritance | | Y[[连锁遗传]] | | 55 |} {{Hierarchy footer}} {{医学遗传学基础图书专题}}
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