《医学遗传学基础》索引

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α－fetoprotein甲胎蛋白133α-thalassemia甲型地中海贫血64abnormal hemoglobin异常血红蛋白61ABO blood groupABO血型50acetyl-transferase乙酰化酶11acetylcholine esterase乙酰胆碱酯酶133achromatopsia全色盲53additive effect累积效应83addittive gene累加基因83adenine腺嘌呤34adenosine deaminase腺苷脱氨酶46adenovirus-polylysine DNA-complex腺病毒多赖氨酸DNA复合体169adult polycystic kidney diseade(APKD)成人多囊肾病166affinity banding agent亲和结合剂143agammaglobinemia无丙球蛋白血症67albinism白化病52，77alcohol dehydrogenase乙醇脱氢酶115aldehyde dehydrogenase乙醛脱氢酶115allele specific oligonucleotide等位特异性寡核苷酸162α-globin gene clusterα珠蛋白基因簇60allopurinol别嘌呤醇143alpecia,hereditary遗传性早秃55alpha-thalassemiaα地中海贫血64，164Alu family Alu家族41amniocentasis羊膜穿刺131Amp-FLP扩增片段长度多态性162amplification扩增161amplified fragment length polymorphism扩增片段长度多态性162anaphase lag后期迟留14ankyrin锚蛋白70aneuploidy非整倍性，异倍性13angiotensin converting enzting enzyme血管紧张素转化酶　angiotensinⅡ血管紧张素Ⅱ87angiotensinogen血管紧张素原87antenatal diagnosis出生前诊断130antihemophilic globulin抗血友病球蛋白72antioncogene抗癌基因125antiparallel反向平行排列14antisense strand反义链36antisense oligdeoxynucleotide反义寡核苷酸167antisense technology反义技术167antithrombin Ⅲ deficiency抗凝血酶Ⅲ缺乏症73α-antitrypsinα-抗胰蛋白酶116arch弓形纹134arch,tented loop蓬账弓形纹134arylhdrocarbon hydroxylase芳烃羟化酶116，120ASO等位特异性寡核苷酸162，165association关联6ataxia telangiectasia,AT毛细血管扩张性共济显性遗传119autosomal dominance inheritance常染色体显性遗传49recessive inheritance常染色体显性遗传52axial triradius轴三叉1355′-azocytidine5氮胞苷167

balanced franslocation平衡易位16Barts hydrops fetalis Barts水肿胎， Barts胎尔水肿综合征64basal cell nevus syndrome基底细胞痣118Becker′s muscular dystrophy轻型假肥大型肌营养不良71β-globin gene clusteβ珠蛋白因簇60β-thalassemiaβ地中海贫血65Bloom′s syndrome Bloom′s综合征19，119blunt terminus平整末端157brachydactyly短指症49，86break point cluster region断点簇区122breakage断裂14brnachitis,chronic慢性支气管炎115bronchial asthma支气管哮喘115Burkitt lymphoma非洲恶性淋巴瘤122

CAAT box CAAT框（盒）32calitonin降钙素39calcitonin gene related pepitde降钙素基因相关肽39cancer genetics肿瘤遗传学2，117cancer family癌家族117candidate gene approach侯选基因方法109carcinogenesis致癌1caucinoma,familial家族性癌117carrier,genetic遗传携带者52，139obligatory肯定携带者52probable可能携带者52cDNA probe探针155cell fusion细胞融合104character着丝粒融合16chimetic minigene性状1cholestyamine嵌合小基因173chorionic villi aspiration sampling消但胺143chromosomal disease绒毛取样132assignment染色体病9，10，20aberration染色体定位130loss染色体畸变20，43chronic bronchitis染色体丢失14obstractive pulmonary disease慢性支气管炎115clastogen慢性阻塞性肺疾患115cliical genetics断裂剂14，138clone panel method临床遗传学1clnidene克隆嵌板法105coding strand可乐定30co-dominance编码链36codon deletion共显性50codon insertion整码缺失45cohesive termius密码子插入45complemetn deficiency粘性末端157complete androgen insensitivity syndrome补体缺乏症69complete dominance雄性素全不敏感综合征75complex genetic disease完全显性49componet analysis复杂性遗传病84concordance疾病组分分析6condensation一致率，同病率5conditional probability凝缩，固缩10congenital条件概率147pancytopenia先天性　disease先天性全血细胞减少症119anomaly先天性疾病8anomaly先天畸形8absence of one kidney先天性单测肾缺如86deficiency of activated protein C inhibitor先天性活化蛋白C抑制物缺乏症74heart defect先天性心脏缺陷86malformation先天畸形84consanguineous marrige近亲婚配96consensus sequence一致顺序32cordocentasis脐血抽吸132coronary artery diseace冠心病87counselee咨询者145counseling,genetic遗传咨询145counselor咨询医生145criss-cross inheritance交叉遗传53cryptic splicing site隐蔽裂解位点69cystic fibrosis囊性纤维化59cytogenetic map细胞遗传图103cytogenetics细胞遗传学1cytosine deaminase胞嘧啶脱氨酶172cytosine胞嘧啶34

deafness耳聋57defective virus缺陷型病毒167deletion缺失15，65interstitial中间缺失15delayed dominance延迟显性51de novo新发生的23deoxyribose脱氧核糖34dermatoglyphy皮纹，皮肤纹理134desferrioxamine去铁胺134developmental genetics发育遗传学2deabetes mellitus糖尿病75，87deagnosis of hereditary diseade遗传病的诊断128diagnosis,gene基因诊断155digital flexion crease指褶线155discontineous gene不连接基因32dizygotic twin异卵双生5DNA viral mediated vectorDNA病毒介导载体169DNA polymeraseⅠDNA聚合酶Ⅰ156dominant inheritance显性遗传49gene显性基因49dosage compensation剂量补偿26double minute双微体125double loop whorl双箕斗134Down′syndrome先天愚型，唐氏综合征22drug targeting药物靶向172Duchenne muscular dystrophy假肥大型肌营养不良31，71，108Duffy′s blood type Duffy血型103duplication重复18，71dyschromatopsia of the protan and deutan红绿色盲53，57dysmorphology畸形学8dystrophin肌营养不良蛋白，抗肌萎缩蛋白71，108

ecogenetics生态遗传学115Edward′s formula Edward公式89Edward′s syndrome Edward综合征，18在体型24electroporotion电穿孔168elliptocytosis椭圆形细胞增多症70empiric risk rate经验风险率151endonuclease, restriction限制性内切酶156endoreduplication核内复制13enhancer增强子32enzyme transplantation酶移植141enzymopathy酶病2，75epilepsy癫痫153equilibrium depletion平衡消除法143eugenics, preventive预防性优生学137eugenics优生学2，137negative负优生学137positive正优生学137pregressive演进性优生学137euthenics优境学137exon外显子32exon trapping外显子捕获3eapressivity表现度51

facilited diffusion易化扩散71familial polyposis coli家族性多发性息肉118carcioma家族性癌117disease家族性疾病8Fanconi anemia Fanconi贫血，先天性全血细胞减少症119fertility生育率94fetoscope胎（儿）镜131finger tip patterns指纹类型134FISH荧光原位杂交106fitness适合度94flanking sequence侧翼顺序2fluorenscence in situ hybridization荧光原位杂交1065′fluorocytosine5′－氟胞嘧啶1725′fluorouracil5′氟尿嘧啶172form fruste顿挫型52forward mutation正向突变93founder effer建立者效应101fragile site脆性部位29，123fragile X syndrome脆性X综合征29full mutation全突变30functional cloning功能克隆108furrow沟134fusion gene融合基因64

galactokinase半乳糖激酶77galactosemia半乳糖血症76galactose-phosphate uridyl transferase半乳糖－1－磷酸尿苷转移酶76G6PD deficency葡糖6－磷酸脱氢酶缺乏症112GC box GC框（盒）32gene dosage effect基因剂量效应76gene基因71therapy基因疗法167expression基因表达36cluster基因簇41cloning基因克隆108frequency基因频率91transfer基因转移168flow基因流102fusion融合基因64diagnosis基因诊断3，130，155location基因定位103map基因图103family基因家族41control控制基因31discontinuous不连续基因32enhancer增强基因32，51interrupted不连续基因32minor微效基因87modiffier修饰基因51pool基因库91reduced减弱基因51regulator调节基因31ribosomal RNA核糖体RNA基因31structural结构基因31genetic　　counseling遗传咨询145engineering基因工程2load遗传负荷96drift遗传漂交101mapping遗传制图103episemiology遗传流行病学1，91drift,random随机遗传漂交101disease遗传病7imprinting遗传印记59toxicology遗传毒理学1susceptibility遗传易感性47polymorphism遗传多态性（现象）80genetics of behavior行为遗传学2gene,transfer RNA转动RNA基因31genic disease基因病9genome基因组40genomic imprinting基因组印记59genomic probe基因组探针155genotype基因型，遗传型49gneotype frequency基因型频率91germ cell gene therapy生殖细胞基因治疗167glucose-6-phosphatase葡糖6－磷酸酶71glucose-6-phosphate dehydrogenase葡糖6－磷酸脱氢酶112glycogen storage disease糖原贮积病77glcophorin血型糖蛋白70gout痛风79guanine鸟嘌呤34

hallical area拇指球部135haptoglobin结合珠蛋白80Hardy-Weinbery law遗传平衡定律92heart defcet,congnital先天性心脏缺损86Hb Lepore血红蛋白Lepore34Hb M disease血红蛋白M病32hemizyote半合子53Heinz′s body变性珠蛋白小体62，113hemoglobinpathy血红蛋白病39hemophilia A甲型血友病57，72B乙型血友病73C丙型血友病73hematochromatosis血色病8，55hereditary diease遗传性疾病，遗传病7persistance of fetal hemoglobin遗传性胎儿血红蛋白持续增高症66heritability遗传率（度）85heterogeneity遗传异质性57heterogenuous nucleaar RNA核内异质RNA36heteromorphism异态性20，80heterozygote杂合子49high resolution banding高分辩显带染色体13highly repetitive sequence高度重复顺序41HLA人类白细胞抗原55holandric inheritance限雄遗传55homgeneously staining region均染区125homologous recombination同源重组118homozygote纯合子49horizontal transmission水平传递8HUGO人类基因组（国际）组织109human genetics人类遗传学1cytogenetics人类细胞遗传学1genomw Mapping人类基因组制图3，103Genome organization人类基因组（国际）组织109genome project人类基因计划3，109genetic diversity Project人类遗传多样性计划109genome mapping人类基因组制图103biochemical genetics人类生化遗传学1leucocyte antigen人类白细胞抗原6，51Huntington′s chorea慢性进行性舞蹈病51，108，148hybrid cell杂种细胞104hydrometrocelops子宫阴道积水56hyperaneuploid高异倍体121hypercholesterolemia, familial家簇性高胆固醇血症74hyperdiploid超二倍体121hyperphenylalaninemia高苯丙氨酸血症78hypertension高血压病87hypervariable region高变区166hypodiploid亚二倍体121hypogammaglobulinemia低丙球蛋白血症68hypoxanthine-guanine-phosphoribosyl transferase次黄嘌呤鸟嘌呤磷酸核糖转移酶79

idiogram组型，模式图10idiosyncracy特应性111immune surveillance免疫监视120immunodeficiency免疫缺陷病67immunogenetics免疫遗传学1in situ hybridization,fluorescence荧光原位杂交106in situ hybridization原位杂交105inborn error of metabolism先天性代谢病2inbreeding coefficinet近婚系数97inbreeding近亲结婚97incomplete dominace不完全显性50inherited disease遗传病7insertion插入17insulin胰岛素32integrin整合素126interchromosomal translocation染色体间易位16intrachromosomal translocation染色体内易位16interstitial deletion中间缺失15intervening sequence插入顺序32intron内含子32inversion倒位16irregular domiannce不规则显性55ISCN人类细胞遗传学命名国际体制13isochromosome等臂染色体15isoenzyme同工酶81isoniazid异烟肼111isozyme同工酶81

karyotype核型10karyotype analysis核型分析129Klinefelter syndrome Klinefelter综合征，先天性睾丸发育不全27KpnI family KpnI家族41

Lac operon hypothesis乳糖操纵子假说46lactic dehydrogenase乳酸脱氢酶81LDL receptor低密度脂蛋白受体75leaky gene漏出基因45Leber′s hereditary optic neuropathy,LHOH遗传视神经病43,58Lesch-Nyhan syndrome自毁容貌综合征79liability易患性84linkage连锁6liposome脂质体142,168loop, radial桡箕134loop,ulner尺箕134loss of heterozygosity(LOG)杂合性丢失126low density lipoprotein(LDL)低密度脂蛋白75Lyon′s hypotheis Lyon假说，X失活假说26lysine chain赖氨酸链169

major histocompatibility complex主要组织兼容性抗原复全体82malformation, congenital先天畸形8malignant melanoma恶性黑色素瘤118maple syrup urine disease枫糖尿病80mapping制图109marker chromosome标记染色体121materal inheritance母系染色体58medical geneics医学遗传学1melanosome黑素小体77membrane diseases膜蛋白病69skeleton膜骨架70mental retardation智力低下，智能发育不全22，151metabolic inhibitor代谢抑制剂143metabolic suppressor gene肿瘤转移抑制基因　gene肿瘤转移基因3，116micro cell微细胞105micodessection显微切割2micrognathia小颌25microinjection显微注射168migration pressure迁移压力102migration迁移102minidystrophin小肌营养不良蛋白170，172minor gene微效基因83mis-paires synapsis错配联会46mitochondrial DNA线粒体DNA42，58model number众数121moderative repetitive sequence中度重复顺序41molecular genetics分子遗传学1cloning分子克隆155disease分子病2，59monogenic disease单基因病4，48monogenic form of multifatorial disease多因子病的单基因型88monosomy单体性13monozygotic twin单卵双生，同卵双生5mosaic嵌合体，同源嵌合体14multidisease screening technique多病性筛查技术141multifactorial inheritance多因子遗传83multiple alleles复等位基因50mulitiple loci determining isozyme多座位同工酶81murine leukemia virus鼠白血病病毒169mutagen诱变剂43,138mutagenesis诱变，致（突）变1mutant突变本43mutation突变43mutation load突变负荷696rate突变率93neutral中性突变45presure突变压力94codon整码突变45elongation延长突变43forward正向突变93frame-shift移码突变45gene基因突变43hot spot of突变热点43induced诱发突变43mis-sens错义突变44neutral中性突变45，93non-sense无义突变45point点突变43reverse回复突变93same sence同义突变44spontaneous自然突变，自发突变43suppressor gene抑制基因突变45synonymous同义突变44termination codon终止密码突变45

neonatal screening新生儿筛查140nephroblastoma肾母细胞瘤119nephrogenic diabetes insipidus肾性尿崩症75neuro-tube defect神经管缺陷133neuroblastoma神经母细胞瘤119neurofibromatosis多发性神经纤维瘤病118neutral mutaiton中性突变45nick translation缺口平移法，缺口翻译156non-disjunction不分离14nucleic acid核酸34nucleotide核苷酸34

obligatory carrier肯定携带者52oncogene癌基因3，123operon操纵子46overproduction disease生产过剩症80

palmal flexion crease掌褶线135palmar 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16peripheral membrane protein外周膜蛋白70pharmacogenetics药物遗传学1，111phenotype表现型，表型49phenylalanine ammonialyase苯丙酸氨基水解酶142phenylalanine hyroxylase苯丙氨酸羟化酶78phenylketouria苯酮尿症78phosphoglucomutase磷酸葡萄变位酶81phosphoribosyi pyrophosphate synthetase磷酸核糖焦磷酸合成酶80physical mapping物理图谱103physical map物理图103placental aldaline phosphatase胎盘碱性磷酸酶81plasmapheresis血浆过滤143plasma thromboplastic antecedent(PTA)deficiency丙型血友病73plasma thromboplastic component(PTA)deficiency乙型血友病73point mutation点突变43point polymorphism点多态158polygenic disease多基因病9，84inheritance多基因遗传9，83disease多基因病9polymerase Ⅰ,DNADNA聚合酶Ⅰ156polymerase chain reaction聚合酶链反应161polymorphism,amplified fragment length扩增片段长度多态性162polymorphism多态性，多态现象20，80balanced平衡多态96sinqle strand conformation单链构象多态162polyneutitis多发性神经炎112polyploidy多倍性13polyprotein多蛋白质38population群体91genetics群体遗传学1，91cytogenetics群体细胞遗传学1porphyrias血卟啉症114positional cloning位置克隆3，108post-zygotic合子后23posterior probability后概率147post-transitional isozyme翻译后同工酶81posttranslational processing翻译后修饰，翻译后加工38pre-mRNA前信息核糖核酸36predisposing gene易感基因120pre-implantation diagnosis植入前诊断132premutation前突变30prenatal diagnosis产前诊断3，130primer引物161prior probability前概率147probability,posterior后概率147conditional条件概率147prior前概率　probable carrier可能携带者52probe探针155proinsulin前胰岛素38pormotor启动子32proteinase inhibitor蛋白酶抑制剂116protein C deficiency蛋白C缺乏症74protein S deficiency蛋白S缺乏症74proto-oncogene原癌基因41，124pseudocholine esterase假胆碱酯酶111pseudogene假基因41pyropoikilocytosis热异形细胞增多症71

qualitative model质量模125qualitative character质量性状83qualitative character数量性状83quinacrine mustard喹吖因氮芥10

radial loop桡箕134radiation genetic drift辐射遗传学1random genetic drift随面遗传漂变101rapid inactivator快灭活者111receptor disease受体病74recessive inheritance隐性遗传　gene隐性基因49reciprocal translocation相互易位16recurrent risk再（复）发风险率145,147regional assignment区域定位103relaxation of selective pressure选择压力放松95repetitive sequence重复顺序41restriction　16endonuclease限制性内切酶71site限制性切点157fragment length polymorphism限制性片段长度多态性158retinitis pigmentosa视网膜色素变性58retinoblastoma视网膜母细胞瘤168reunion重接，重连14reverse genetics逆向遗传学，反向遗传学108,130diagnosis逆向诊断130RFLP限制性片段长度多态性158ribose核糖34ridge count嵴纹数134ridge嵴纹134ring chromosome环形（环状）染色体15RNA splicing RNA剪接36Robertsonian translcation罗氏易位16

sarcolemma　　satellite DNA卫星DNA159SCE姐妹染色单体交换19screening technique,multidisease多病性筛查技术141screening,neotatal新生儿筛查140screening,pooulation群体筛查141secodary isozyme次级同工酶81segregatioon load分离负荷96selection选择94selective coefficient选择压力94selective pressure选择压力94self-replication自体复制，自身复制35semi-conservative replication半保留复制35semi-dominance半显性50sense strand有义链36sequencing测序109severe combined immunodeficiency严重联合免疫缺陷病68sex chromatin性染色质27sex-influrencek inheritance从性遗传55sex-limited inheritance限性遗传55sex-linked inheritance性连锁遗传，伴性遗传53shift移位16shout tandenm repeats短串联重复顺序71sickle cell anemia镰状（形）细胞性贫血165sickle cell disease镰形细胞病62side line旁系121simian crease猿线135simple whorl单螺纹134single strand conformation polymorphism单链构象多态性162sister chromotid exchange姐妹染色单体交换19slow inactivator慢灭活者111smear连续带谱，血片状带型160somatic cell体细胞104hybridization体细胞杂交104genetics体细胞遗传学1，104gene therapy体细胞基因治疗167Southern blot Southern印变杂交，DNA印变杂交80spectrin膜收缩蛋白70spherocytosis球形细胞增多症70spina bifida脊柱裂86spontaneous mutation自发突变，自然突变43SRY gene睾丸决定因子基因133SSCP单链构象多态性162stem line干系121strychnine士的宁143subclinical marker亚临床标记6succinylcholine琥珀酰碱111sucrose intolerance,congenital先天性蔗糖不耐受症80superfemale超雌28suxamethonium琥珀酰碱111

TATA box TATA框（盒）32template模板35template strand模板链36tented arch帐弓134teratogen致畸剂8，138teratogenesis致畸1terminator终止子54testicular ferminization syndrome睾丸女性化综合征75testis determining factor睾丸决定因子26thalidomide反应停8thalassemia地中海贫血64，65therapy,gene基因治疗4threshold阈值84thymine胸腺嘧啶34total finger ridge count总指嵴纹数134toxocogenetics毒理遗传学1trait性状1transcription转录36transferrin运铁蛋白81transgenic mice转基因小鼠168transition转换44transversion颠换44transition翻译37transversion易位16transmembrane protein跨膜蛋白，整合膜蛋白70transport disease转运病71transversion转位16triethylene tetramine dihydrochloride二盐酸三乙烯四胺142triadius三叉134trisomy，13 13三体性Edward综合征24trisomy三体性13trisomy，13 13三体性，Patau综合征24trivalent三价体16tumor necrosis factor肿瘤坏死因子171tumor seppressor gene肿瘤抑制基因3，124tumor infiltrating lymphocyte肿瘤浸润淋巴细胞171Turner′s syndrome Turner综合征，先天性卵巢发育不全27tyrosinase酪氨酸酶77

ulner loop尺箕134unequal crossing-over不等交换46uniparental disomy单亲二倍体59unique sequence单一顺序4unstablehemoglobinpathy不稳定血红蛋白病62uracil尿嘧啶34

variable number tandem repeats可变串联重复顺序158variants变异型130vector载体168vertical transmission垂直传递8viral directed enzyme prodrug therapy病毒介导酶药前体治疗172viral mediated gene transfer病毒介导转移168viral vector病毒载体169vitamin D resistant rickets抗维生素D佝偻病34vitamin responsive hereditary disorders维生素反应性遗传病79VNTR可变串联重复顺序158von Gierke disease糖原贮病Ⅰ型77von Willibrand disease血管性假血友病73von Willibrand factor vWF因子72

whorl斗形纹134double loop双箕斗134simple一般斗形纹134wild type野生型43Wilms tumor肾母细胞瘤59，119

xanthoma黄瘤74xeroederma pigmentosum着色性干皮病120X-linked dominance inheritanceX连锁显性遗传54recessive inheritanceX连锁隐性遗传53XYYsyndrome XYY综合征27

Y－linked inheritanceY连锁遗传55