索引
2011-11-14 21:11:51   来源：   作者：  评论：0 点击：

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 groupABO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 clusterα珠蛋白基因簇60
allopurinol别嘌呤醇143
alpecia,hereditary遗传性早秃55
alpha-thalassemiaα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Ⅱ87
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-antitrypsinα-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′-azocytidine5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 clusteβ珠蛋白因簇60
β-thalassemiaβ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 vectorDNA病毒介导载体169
DNA polymeraseⅠDNA聚合酶Ⅰ156
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′fluorocytosine5′－氟胞嘧啶172
5′fluorouracil5′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Lepore34
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RNA36
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DNA42，58
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,DNADNA聚合酶Ⅰ156
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DNA159
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 inheritanceX连锁显性遗传54
recessive inheritanceX连锁隐性遗传53
XYYsyndrome XYY综合征27

Y
Y－linked inheritanceY连锁遗传55