醫(yī)學遺傳學專業(yè)英文詞匯

1、醫(yī)學遺傳學專業(yè)英文詞匯Aacrocentric chromosome 近端著絲粒染色體acute intermittent porphyria 急性間隙性卟啉癥additive gene累加基因adenylate deaminase， ADA 腺苷脫氨酶affected pedigree member， APM 患病家系成員法affected sib-pair， ASP 患病同胞對法agammaglobulinemia丙種球蛋白血癥albinism白化病alkaptonuria尿黑酸尿癥Allele-specific oligonucleotide，ASO 等位基因特異性寡核苷酸Alu fam

2、ily Alu 家族An International System for Human Cytogenetics Nomenclature， ISCN 人類細胞遺傳學命名的 國際體制anaphase lag染色體分裂后期延滯anencephalus無腦畸胎aneupliod非整倍體anticipation遺傳早現(xiàn)antisense technology 反義技術(shù)association 關(guān)聯(lián)assortative mating 選型婚配atrial septal defect， ASD 房間隔缺損autoimmune disease， AID自身免疫性疾病autosomal disease 常染

3、色體病autosomal dominant inheritance， AD 常染色體顯性遺傳autosomal dominantly inherited chronic progressive external ophthalmoplegia, AD-CPEO 慢性進 行性外眼肌麻痹autosomal inheritance 常染色體遺傳average inbreeding coefficient 平均近婚系數(shù)autosomal recessive inheritance， AR 常染色體隱性遺傳autosome常染色體Bbalanced translocation carrier染色體平衡易

4、位攜帶者base substitution 堿基替換biological fitness 生物適合度biometric model fitting生物統(tǒng)計模型擬合birth defect出生缺陷brachydactyly 短指（趾）癥breakage 斷裂bronchial asthma支氣管哮喘carrier攜帶者centi-Morgan, cM 厘摩centric fusion 著絲粒融合centromere 著絲粒chromatid染色單體chromatin染色質(zhì)chromosomal disorder 染色體病chromosomal polymorphism 染色體多態(tài)性chromos

5、omal rearrangement 染色體重排chromosome 染色體chromosome aberration 染色體畸變chromosome banding 染色體顯帶chromosome lose 染色體丟失chromosome set 染色體組chronic progressive external ophthalmoplegia， CPEO 慢性進行性眼外肌癱瘓 clinical genetics 臨床遺傳學co-segregation 共分離codominance 共顯性codon密碼子coefficient of relationship 親緣系數(shù)comparative g

6、enomics 比較基因組學complete penetrance 完全外顯complex disease 復雜疾病congenital adrenal hyperplasia先天性腎上腺皮質(zhì)增生癥congenital glucose-galactose malabsorption先天性葡萄糖、半乳糖吸收不良癥 congenital malformation 先天畸形consanguinous mating 近親婚配cri du chat syndrome 貓叫綜合征cysticfibrosis， CF囊性纖維樣變cystinuria胱氨酸尿癥Ddelayed dominance 延遲顯性de

7、letion 缺失derivation chromosome 衍生染色體diabetes mellitus， DM 糖尿病diandry雙雄受精dicentric chromosome雙著絲粒染色體digyny雙雌受精diploid 二倍體Down Syndrome, DS Down 綜合征Down syndrome cell adhesion molecule, DSCAM DS 細胞黏附分子Down syndrome critical region, DCR DS 關(guān)鍵區(qū)Duchenne muscular dystrophy, DMD Duchenne 型肌營養(yǎng)不良癥duplication

8、 重復dynamic mutation 動態(tài)突變EEdward syndrome Edward 綜合征Ehlers-Danlos Ehlers-Danlos 綜合征endomitosis核內(nèi)有絲分裂endoreduplication 核內(nèi)復制euchromatin常染色質(zhì)eugenics優(yōu)生學euphanics優(yōu)形學euploid整倍體eupsychics 優(yōu)心學euthenics優(yōu)境學expanded familial genetic counseling 擴大的家庭遺傳咨詢expressivity 表現(xiàn)度Ffetal alcohol syndrome胎兒酒精綜合征frame-shift m

9、utation 移碼突變functional cloning 功能克隆functional genomics功能基因組學familiar hypercholesterolemia 家族性高膽固醇血癥Ggain-of-function mutation 功能加強突變galactosemia半乳糖血癥gene基因gene augmentation 基因增強gene correction 基因修正gene expression 基因表達gene mutation 基因突變gene replacement 基因替代gene therapy基 因治療genetic code遺傳密碼genetic cou

10、nseling 遺傳咨詢genetic disease 遺傳病genetic heterogeneity 遺傳異質(zhì)性genetic imprinting 遺傳印記genetic map 遺傳圖genetic medicine 遺傳醫(yī)學genetic shift隨機遺傳漂變genome 基 因組genomic imprinting 基因組印記glucose-6-phosphate dehydrogenase deficiency, G6PD葡糖-6-磷酸脫氫酶缺乏癥glycogen storage disease， GSD 糖原貯積癥GT-AG rule GT-AG 法則Hhaploid單倍體h

11、aplotype單倍型healthy birth健康生殖hemizygote 半合子hemoglobinopathy血紅蛋白疾病hemolytic disease of the newborn 新生兒溶血癥hemophilia A 血友病 Ahereditary chorea遺傳性舞蹈病hereditary enzymopathy 遺傳性酶病heritability 遺傳度heterochromatin 異染色質(zhì)heteromorphism 異形性heteroplasmy 異質(zhì)性histo-blood group 組織血型homoplasmy 同質(zhì)性housekeeping protein 持

12、家蛋白human genetics 人類遺傳學human genome diversity project， HGDP 人類基因組多樣性計劃human genome project， HGP 人類基因組計劃human leucocyte antigen， HLA 人類白細胞抗原h(huán)uman prion diseases人類骯蛋白病Huntingtons chorea Huntii舞蹈病hydramnios羊水過多hyperdiploid 超二倍體hypodiploid 亞二倍體Iimmunodeficiency 免疫缺陷inborn errors of metabolism 先天性代謝缺陷inb

13、reeding coefficient 近婚系數(shù) incomplete penetrance 不完全夕卜顯induced aberration 誘發(fā)畸變induced mutaion 誘發(fā)突變industrial genomics 工業(yè)基因組學inherited disorders of collage 膠原蛋白病insertion 插入interstitial deletion 中間缺失intrauterine diagnosis 宮內(nèi)診斷inversion 倒位irregular dominance 不規(guī)則顯性isochromosome等臂染色體Kkaryotype 核型karyotype

14、 analysis 核型分析Kearns-Sayre syndrome, KSS Kearns-Sayre 綜合征Klinefelter syndrome Klinefelter 綜合征Kpn I family Kpn I 家族Llandmark 界標Leber hereditary optic neuropathy, LHON Leber 遺傳性視神經(jīng)病Leigh sysdrom, LS Leigh 綜合征Lesch-Nyhan syndrome Lesch-Nyhan 綜合征liability易患性length-based heteroplasmy 長度異質(zhì)性linkage map 連鎖圖

15、loss-of-function mutation 功能丟失的突變 luxury protein 奢侈蛋白Mmajor gene 主基因major histocompatibility complex, MHC 主要組織相容性復合體maternal inheritance 母系遺傳medical genetics 醫(yī)學遺傳學metacentric chromosome 中著絲粒染色體minor gene 微效基因missense mutation 錯義突變mitochondrial disease 線粒體病mitochondrial DNA, mtDNA 線粒體 DNAmitochondria

16、1 encephalomyopathies, ME 線粒體腦肌病 mitochondrial encephalomyopathy with lactic acidosis , and stroke-like episodes, MELAS 線粒 體腦肌病合并乳酸血癥及卒中樣發(fā)作molecular diagnosis 分子診斷molecular disease 分子病monogenic disorder 基因遺傳病monosomy單體型morbid genomics疾病基因組學mucopolysaccharidosis, MPS 粘多糖貯積癥multifactorial disorder 多因子

17、病multifactorial inheritance， MF 多因子遺傳mutagen誘變劑mutant protein 突變蛋白mutation 突變mutation load突變負荷myeloschisis 脊髓裂myoclonic epilepsy and ragged red fibers， MERRF 伴有破碎紅纖維的肌陣攣癲癇Nneonatal screening 新生兒篩查neurogenic muscle weakness,ataxia,and retinitis pigmentosa, NARP 神經(jīng)源性肌軟弱、共濟失調(diào)并發(fā)色素性視網(wǎng)膜炎non-disjunction 不分

18、離non-sense mutation 無義突變novel property mutation 新特征突變nuclear DNA，nDNA 核 DNAnullosomy缺體型OOnline Mendelian Inheritance in Man在線人類孟德爾遺傳osteogenesis imperfecta 成骨不全Pparacentric inversion 臂內(nèi)倒位parental imprinting 親代印記Parkinson disease， PD 帕金森病path analysis通徑分析Patau syndrome Patau 綜合征pedigree analysis 系譜分析

19、法penetrance夕卜顯率pericentric inversion 臂間倒位peudogene擬基因pharmacogenomics藥物基因組學phenocopy擬表型phenylketonuria, PKU 苯丙酮尿癥physical map 物理圖plasma protein disease 血漿蛋白病pleiotropy基因的多效性point mutation 點突變polygenic disorder多基因遺傳病polygenic inheritance 多基因遺傳polyploid多倍體polysomy多體型positional cloning 位置克隆post-transla

20、tional isozyme 番羽譯后同工酶prenatal diagnosis 產(chǎn)前診斷proband先證者proteomics蛋 白質(zhì)組學pseudodiploid 假二倍體Qqualitative character 質(zhì)量性狀quantitative character 數(shù)量性狀quantitative trait loci, QTL 數(shù)量性狀位點Rreceptor disease 受體病reciprocal translocation 相互易位recurrence risk再發(fā)風險率rejoin重接restriction fragment length polymorphism, RF

21、LP 限制性片段長度多態(tài)性reunion 愈合或重合rheumatoid authritis, RA 類風濕性關(guān)節(jié)炎ring chromosome環(huán)狀染色體Robertsonian translocation 羅伯遜易位Ssame sense mutation 同義突變schizophrenia, SZ 精神分裂癥segregation load 分離負荷selection coefficient 選擇系數(shù)sequence-based heteroplasmy 序列異質(zhì)性sequence map 序列圖severe combined immunodeficiency, SCID 嚴重聯(lián)合免疫缺

22、陷病sex chromatin 性染色質(zhì)sex chromosome 性染色體sex chromosome disease 性染色體病sex-conditioned inheritance 從性遺傳sex-determining region Y, SRY Y 性別決定區(qū)域sex-limited inheritance 限性遺傳short tandem repeat， STR 短串聯(lián)重復sick1e cel1 anemia鐮狀細胞貧血single gene disorder單基因遺傳病single nucleotide polymorphism， SNP 單核苷酸多態(tài)性single-stran

23、d conformation polymorphism， SSCP 單鏈構(gòu)象多態(tài)性 small deletion syndrome微小缺失綜合征somatic cell genetic disorder 體細胞遺傳病somatic mutation體細胞突變spina difida 脊柱裂spina bifida occulta 隱性脊柱裂spontaneous aberration 自發(fā)畸變spontaneous mutation 自發(fā)突變static mutation 靜態(tài)突變structural equation modeling 結(jié)構(gòu)等式模型structural genomics結(jié)構(gòu)基因組學submetacentric chromosome亞中著絲粒染色體susceptibility 易感性Ttandemly repeatd genes 串聯(lián)重復基因telocentric chromosome端著絲粒染色體telomere 端粒teratogen致畸因子terminal del