醫(yī)學遺傳學詞匯英語術(shù)語英文(Glossary).doc

Acceptor splice site？The boundary between the 3 end of an intron and the 5 end of the following exon. Also called 3 splice site.剪接受體位點：內(nèi)含子3末端與下一個外顯子5端之間的交界處。又稱3剪接位點。Acrocentric？A type of chromosome with the centromere near one end. The human acrocentric chromosomes (13, 14, 15, 21, and 22) have satellited short arms that carry genes for ribosomal RNA.近端著絲粒（染色體）：著絲粒位于接近染色體臂端部的染色體。人類近端著絲粒染色體（第13、14、15、21和22號）短臂的隨體攜帶有編碼核糖體RNA的基因。Adverse selection？A term used in the insurance industry to describe the situation in which individuals with private knowledge of having an increased risk for illness, disability, or death buy disproportionately more coverage than those at a lower risk. As a result, insurance premiums, which are based on averaging risk across the population, are inadequate to cover future claims.逆向選擇：保險業(yè)的專有名詞，指投保人知曉其有較高的患病、殘疾或死亡風險，但隱瞞真相購買相關(guān)保險。因此，根據(jù)人群平均風險制定的保險費不足以支付相關(guān)費用。Affected pedigree member method？A model-free method of linkage analysis that systematically measures whether relatives affected with a disease share alleles at a locus more frequently than would be predicted by chance alone from their familial relationship. If the relatives are sibs, it is referred to as the affected sibpair method of linkage analysis.患病家系成員法：一種不用模型的連鎖分析方法。系統(tǒng)性地分析同患疾病的家系成員共享同一基因座等位基因的頻率是否高于隨機計算值。若為胞親，則稱為連鎖分析的患病胞對法。Allele？One of the alternative versions of a gene or DNA sequence at a given locus.等位基因：在一對同源染色體的同一基因座上的兩個不同形式的基因。Allele-specific oligonucleotide (ASO)？An oligonucleotide probe synthesized to match a particular DNA sequence precisely and allow the discrimination of alleles that differ by only a single base.等位基因特異的寡核苷酸（ASO）：與基因點突變熱點區(qū)互補的人工合成的寡核苷酸序列。 Allelic exclusion？In immunogenetics, the observation that only one of the pair of parental alleles for each H chain and L chain of an immunoglobulin molecule is expressed within a single cell.等位基因排斥：免疫球蛋白的雜合子只表達一對等位基因中的一個的現(xiàn)象。Allelic heterogeneity？In a population, there may be a number of different mutant alleles at a single locus. In an individual, the same or similar phenotypes may be caused by different mutant alleles rather than by identical alleles at the locus.等位基因異質(zhì)性 ：一個基因有多種突變，產(chǎn)生多種異常表型的現(xiàn)象。個體相同或相似的表型，可能是由不同的突變等位基因引起，而非同一基因座的相同等位基因。Allogenic？In transplantation, denotes individuals (or tissues) that are of the same species but that have different antigens (alternative spelling: allogeneic).同種異型 ：在移植中表示同種個體（或組織），但是抗原不同。Alpha-fetoprotein (AFP)？A fetal glycoprotein excreted into the amniotic fluid that reaches abnormally high concentration in amniotic fluid (and maternal serum) when the fetus has certain abnormalities, especially an open neural tube defect.甲胎蛋白（AFP）：一種分泌入羊水的胎兒糖蛋白。當胎兒罹患某種疾病（尤其是開放性神經(jīng)管缺陷）時，羊水（和產(chǎn)婦血清）中的甲胎蛋白濃度呈現(xiàn)異常。Alu repeat sequence？In the human genome, about 10% of the DNA is made up of a set of about 1,000,000 dispersed, related sequences, each about 300 base pairs long, so named because they are cleaved by the restriction enzyme AluI.Alu重復序列：人類基因組中，約10的DNA是由1000000多種分散的相關(guān)序列組成，每種長約300bp，因序列中有限制性內(nèi)切酶AluI.的切點而得名。Amniocentesis？A procedure used in prenatal diagnosis to obtain amniotic fluid, which contains cells of fetal origin that can be cultured for analysis. Amniotic fluid is withdrawn from the amniotic sac by syringe after insertion of a hollow needle into the amnion through the abdominal wall and uterine wall.羊膜穿刺：一種獲得羊水以進行產(chǎn)前診斷的方法。羊水中有胎兒細胞，可培養(yǎng)以進行分析檢測。用穿刺針自孕婦的腹壁穿入胎兒的羊膜腔中，抽取羊水。Amplification？1. In molecular biology, the production of multiple copies of a sequence of DNA. 2. In cytogenetics, amplification refers to multiple copies of a sequence in the genome that are detectable by comparative genomic hybridization (CGH).擴增：1. 在分子生物學中，指某DNA序列的多個拷貝產(chǎn)物。2. 在細胞遺傳學中，指能夠用比較基因組雜交（CGH）檢測到的多個拷貝序列。Analytic validity？In reference to a clinical laboratory test, the ability of that test to perform correctly, that is, measure what it is designed to measure.分析效力：指臨床實驗室檢測的準確度。Aneuploidy？Any chromosome number that is not an exact multiple of the haploid number. The common forms of aneuploidy in humans are trisomy (the presence of an extra chromosome) and monosomy (the absence of a single chromosome).非整倍性：細胞中染色體的數(shù)目不是染色體基數(shù)的整倍數(shù)的狀態(tài)。人類常見的非整倍性如三體（一條染色體多余）和單體（一條染色體缺失）。Anomalies？Birth defects resulting from malformations, deformations, or disruptions.異常：指畸形、變形或畸化等出生缺陷。Anticipation？The progressively earlier onset and increased severity of certain diseases in successive generations of a family. Anticipation is caused by expansion of the number of unstable repeats within the gene responsible for the disease.遺傳早現(xiàn)：某種遺傳病的癥狀一代比一代嚴重，而且發(fā)病時間一代早于一代。由疾病相關(guān)基因的不穩(wěn)定重復片段的擴增引起。Anticodon？A three-base unit of RNA complementary to a codon in mRNA.反密碼子：tRNA中與mRNA密碼子反向互補的三核苷酸序列。Antisense strand of DNA？The noncoding DNA strand, which is complementary to mRNA and serves as the template for RNA synthesis. Also called the transcribed strand.反義DNA鏈：即非編碼的那條DNA鏈，與mRNA互補，為RNA合成的模板。又稱轉(zhuǎn)錄鏈。Apoptosis？Programmed cell death characterized by a stereotypic pattern of mitochondrial breakdown and chromatin degradation.細胞凋亡 ：即 程序性細胞死亡，由生理或病理信號引發(fā)的自主性的細胞清除過程。Array CGH？Comparative genome hybridization performed by hybridizing to a wafer (“chip”) made of glass, plastic, or silicon onto which a large number of different nucleic acids have been individually spotted in a matrix pattern. See microarray.陣列CGH：將大量核苷酸矩陣排布于由玻璃、塑料或硅制成的晶片上，并與之雜交的比較基因組雜交方法。見“微陣列”。Ascertainment？The method of selection of individuals for inclusion in a genetic study.確認：發(fā)現(xiàn)并選出有某種遺傳病的家系。Ascertainment bias？A difference in the likelihood that affected relatives of affected individuals will be identified, compared with similarly affected relatives of controls. A possible source of error in family studies.確認偏倚：確定患者親屬與對照組親屬的患病情況而出現(xiàn)的差錯。是家系研究出現(xiàn)差錯的原因之一。Association？1. In genetic epidemiology, describes the situation in which a particular allele is found either significantly more or significantly less frequently in a group of affected individuals than would be expected from the frequency of the allele in the general population from which the affected individuals were drawn; not to be confused with linkage. 2. In dysmorphology, a group of abnormalities of unknown etiology and pathogenesis that is seen together more often than would be expected by chance.關(guān)聯(lián)：.在遺傳流行病學中，指某特異等位基因在患者群體中出現(xiàn)的頻率顯著異常，需與連鎖相區(qū)分。.在畸形學中，指一組未知病因、病理異常同現(xiàn)的幾率較高。Assortative mating？Selection of a mate with preference for a particular genotype; that is, nonrandom mating. Usually positive (preference for a mate of the same genotype), less frequently negative (preference for a mate of a different genotype).選型交配：選擇與某種基因型的個體交配；即非隨機交配。常見正向選擇（與相同基因型的交配），罕見負向選擇（與不同基因型的交配）。Assortment？The random distribution of different combinations of the parental chromosomes to the gametes. Nonallelic genes assort independently, unless they are linked.組合：親代染色體在配子中的隨機組合。非連鎖的非等位基因進行自由組合。Autoimmune disorder？A disease characterized by an abnormal immune response apparently directed against antigens of the individuals own tissues; thought to be related to variation in the immune response resulting from polymorphism in immune response genes.自身免疫性疾?。簩ψ陨斫M織抗原產(chǎn)生異常免疫反應(yīng)的疾病；一般認為由免疫反應(yīng)基因的多態(tài)性變異所致。Autologous？Refers to grafts in the same animal from one part to another, or to malignant cells and the cells of the individual in which they have arisen.自體的：指同一生物體內(nèi)的移植物，或指個體自身的惡性細胞和細胞。Autosome？Any nuclear chromosome other than the sex chromosomes; 22 pairs in the human karyotype. A disease caused by mutation in an autosomal gene or gene pair shows autosomal inheritance.常染色體：染色體組中除性染色體以外的所有染色體；人類核型中共有對。常染色體基因或基因?qū)Πl(fā)生突變導致的疾病呈常染色體遺傳。Bacterial artificial chromosomes (BACs)？Vectors capable of carrying 100 to 300 kb of cloned human DNA; propagated in bacteria and used in high-resolution gene mapping and DNA sequencing.細菌人工染色體（）：能夠攜帶人類的克隆載體；在細菌中繁殖，可用于繪制高分辨率基因圖譜和測序。Balanced polymorphism？A polymorphism maintained in the population by heterozygote advantage, allowing an allele, even one that is deleterious in the homozygous state, to persist at a relatively high frequency in the population.平衡多態(tài)性：多態(tài)性在群體中持續(xù)保持的現(xiàn)象。方式是通過雜合子優(yōu)勢，使得某一即使是在純合狀態(tài)下有害的等位基因在群體中保持相對的高頻率。Banding？One of several techniques that stain chromosomes in a characteristic pattern, allowing identification of individual chromosomes and structural abnormalities. See C bands, G bands, Q bands, R bands in text.顯帶：用特殊的染色方法使染色體沿縱長的方向出現(xiàn)特定型式的橫紋，用于確定染色體數(shù)目和結(jié)構(gòu)異常。詳見正文中的帶、帶、帶和帶。Barr body？The sex chromatin as seen in female somatic cells, representing an inactive X chromosome.Barr小體：女性體細胞中的性染色質(zhì)，即為失活的染色體。Base pair (bp)？A pair of complementary nucleotide bases, as in double-stranded DNA. Used as the unit of measurement of the length of a DNA sequence.堿基對（）：雙鏈上的一對互補堿基對。用于表示序列的長度。Bayesian analysis？A mathematical method widely used in genetic counseling to calculate recurrence risks. The method combines information from several sources (genetics, pedigree information, and test results) to determine the probability that a specific individual might develop or transmit a certain disorder.Bayesian分析：廣泛應(yīng)用于遺傳咨詢中計算再發(fā)風險的一個數(shù)學定理。這種方法將幾種信息（遺傳學、系譜信息和檢測結(jié)果）綜合起來，以計算某個體罹患或遺傳某種疾病的概率。Beneficence？The ethical principle of behaving in a way that promotes the well-being of others. See maleficence.慈善：維護他人健康的倫理行為準則。參見惡行。Binomial expansion？When there are two alternative classes, one with probability p and the other with probability, the frequencies of the possible combinations of p and q in a series of n trials is (p+q)n.二項展開式：若一種情況出現(xiàn)的概率為，另一種為，則和組合出現(xiàn)的概率為（p+q）2的二項展開式。Bioinformatics？Computational analysis and storage of biological and experimental data, widely applied to genomic and proteomic studies.生物信息學：運用計算機分析和貯存生物學和實驗數(shù)據(jù)，已被廣泛運用于基因組學和蛋白組學的研究。Birth defect？An abnormality present at birth, not necessarily genetic.出生缺陷：出生即帶的異常，并非都是遺傳性的。Bivalent？A pair of homologous chromosomes in association, as seen at metaphase of the first meiotic division.二價體：發(fā)生聯(lián)會時的一對同源染色體，見于第一次減數(shù)分裂的中期。Blastocyst？A stage in early embryogenesis in which the initial ball of cells derived from the fertilized egg (the morula) secrete fluid and form a fluid-filled internal cavity within which is a separate group of cells, the inner cell mass.胚泡：早期胚胎發(fā)育階段，受精卵連續(xù)分裂，形成桑葚胚，桑葚胚空腔化形成囊胚腔，內(nèi)細胞團位于腔體的一端。Blood group？The phenotype produced by genetically determined antigens on a red blood cell. The antigens formed by a set of allelic genes make up a blood group system.血型：由紅細胞表面抗原所決定的血型抗原類型。一組等位基因所決定的抗原組成了血型系統(tǒng)。Cap？A modified nucleotide added to the 5 end of a growing mRNA chain, required for normal processing, stability, and translation of mRNA.帽：鏈端的核苷酸修飾，為正常加工、穩(wěn)定和翻譯所必需。Caretaker genes？Tumor-suppressor genes that are indirectly involved in controlling cellular proliferation by repairing DNA damage and maintaining genomic integrity, thereby protecting proto-oncogenes and gatekeeper tumor-suppressor genes from mutations that could lead to cancer.看守基因：通過修復損傷和維持基因組完整性，防止原癌基因和看門類腫瘤抑制基因的突變而導致癌癥，從而間接控制細胞增殖的腫瘤抑制基因，。Carrier？An individual heterozygous for a particular mutant allele. The term is used for heterozygotes for autosomal recessive alleles, for females heterozygous for X-linked alleles, or, less commonly, for an individual heterozygous for an autosomal dominant allele but not expressing it (e.g., a heterozygote for a Huntington disease allele in the presymptomatic stage).攜帶者：特定突變等位基因的雜合子。可指常染色體隱性等位基因的雜合子，-連鎖等位基因的女性雜合子，未表達的常染色體顯性等位基因的雜合子（較少用。如癥狀前階段的Huntington舞蹈癥等位基因的雜合子）。Case-control study？An epidemiological method in which patients with a disease (the cases) are compared with suitably chosen individuals without the disease (the controls) with respect to the relative frequency of various putative risk factors.病例-對照研究：一種流行病學方法，即將罹患某種疾病的患者（病例組）與對應(yīng)的正常個體（對照組）進行比較，分析各種風險因素的相對頻率。cDNA？See complementary DNA.cDNA：參見互補。Cell cycle？The stages between two successive mitotic divisions, described in the text. Consists of the G1, S, G2, and M stages.細胞周期：細胞從一次分裂結(jié)束到下一次分裂結(jié)束為止的一個過程。由G1期、S期、G2期和 M期組成。Centimorgan (cM)？The unit of distance between genes along chromosomes, named for Thomas Hunt Morgan. Two loci are 1 cM apart if recombination is detected between them in 1% of meioses.厘摩（cM）：染色體基因間的距離單位，以Thomas Hunt Morgan命名。若個基因座間發(fā)生1%的減數(shù)分裂重組，則相距1 cM。Centromere？The primary constriction on the chromosome, a region at which the sister chromatids are held together and at which the kinetochore is formed. Required for normal segregation in mitosis and meiosis.著絲粒：染色體的主縊痕，使姐妹染色單體連在一起，在其兩側(cè)各有一個由蛋白構(gòu)成的動粒。為有絲分裂和減數(shù)分裂中的正常分離所需。Centrosomes？A pair of centers that organize the growth of the microtubules of the mitotic spindle; visible at the poles of the dividing cell in late prophase.中心體：由一對中心粒組成的細胞結(jié)構(gòu)，是動物細胞的主要微管形成中心?？梢娪谇捌谕砥诜至鸭毎膬蓸O。CG (or CpG) island？Any region of the genome containing an unusually high concentration of the dinucleotide sequence 5-CG-3. Often associated with promoters of genes, in particular housekeeping genes.CG（或CpG）島：含雙核苷酸序列5-CG-3較多的區(qū)域。通常與基因（尤其是持家基因）的啟動子有關(guān)。CGH？See comparative genome hybridization.CGH：參見比較基因組雜交。Chain termination mutation？A mutation that generates a stop codon, thus preventing further synthesis of the polypeptide chain.鏈終止突變：形成終止密碼子的突變，因而終止了多肽鏈的繼續(xù)合成。Checkpoint？Positions in the cell cycle, usually at the junction between the G1 and S or the G2 and M stages, at which the cell determines whether to proceed to the next stage of the cycle.檢查點：細胞周期的監(jiān)控機制，通常在G1 期與S 期，或G2期與 M期之間，決定細胞是否進入下一個周期。Chemical individuality？A term coined by Archibald Garrod to describe the naturally occurring differences in the genetic and biochemical makeup of each individual.藥品個體化：由Archibald Garrod提出，形容每位個體遺傳和生化構(gòu)成的不同。Chiasma？Literally, a cross. The term refers to the crossing of chromatid strands of homologous chromosomes, seen at the diplotene of the first meiotic division. Chiasmata are thought to be evidence of interchange of chromosomal material (crossovers) between members of a chromosome pair.交叉：在減數(shù)分裂前期的雙線期，聯(lián)會復合體中非姐妹染色單體之間發(fā)生了互換，互換的連接點稱為交叉。Chimera？An individual composed of cells derived from two genetically different zygotes. In humans, blood group chimeras result from exchange of hematopoietic stem cells by dizygotic twins in utero; dispermic chimeras, which are very rare, result from fusion of two zygotes into one individual. Chimerism is also an inevitable result of transplantation.【異源】嵌合體：由來自不同基因型的合子演變而來的兩個或多個不同的細胞系混合構(gòu)成的個體。在人類，二卵雙生子在子宮中交換造血干細胞，而導致血型嵌合體；雙精嵌合體十分罕見，兩個受精卵融合為一個個體所致。移植必定導致嵌合現(xiàn)象。Chorionic villus sampling (CVS)？A procedure used for prenatal diagnosis at 8 to 10 weeks gestation. Fetal tissue for analysis is withdrawn from the villous area of the chorion either transcervically or transabdominally, under ultrasonographic guidance.絨膜絨毛取樣（CVS）：妊娠周時進行產(chǎn)前診斷的一種方法。在超聲指導下，通過宮頸或腹壁取得絨膜絨毛，以進行胎兒組織分析。Chromatids？The two parallel strands of chromatin, connected at the centromere, that constitute a chromosome after DNA synthesis.染色單體：染色體復制后仍由同一個著絲粒連在一起的兩條子染色體。Chromatin？The complex of DNA and proteins of which chromosomes are composed. See also nucleosome.染色質(zhì)：和組蛋白的復合物。參見核小體。Chromosomal satellite？A small mass of chromatin containing genes for ribosomal RNA, at the end of the short arm of each chromatid of an acrocentric chromosome; not to be confused with satellite DNA.染色體隨體：染色質(zhì)的一小部分，含有核糖體基因，位于近端著絲粒染色體的短臂染色質(zhì)末端；勿與衛(wèi)星混淆。Chromosome？One of the threadlike structures in the cell nucleus; consists of chromatin and carries genetic information (DNA).染色體：細胞核中的線形結(jié)構(gòu)；由染色質(zhì)構(gòu)成，攜帶遺傳信息（）。Chromosome disorder？A clinical condition caused by an abnormal chromosome constitution in which there is duplication, loss, or rearrangement of chromosomal material.染色體病：染色體結(jié)構(gòu)和數(shù)目異常引起的遺傳病，包括染色體的重復、丟失和重排等。Chromosome mutation？A change in the genetic material at the chromosome level.染色體突變：染色體水平的遺傳物質(zhì)改變。Chromosome painting probe？A multilocus probe designed for fluorescence in situ hybridization (FISH) that hybridizes to only one particular chromosome or chromosome arm.染色體涂染探針：用于熒光原位雜交（FISH）的多基因座探針，只與某一染色體或染色體臂雜交。Chromosome segregation？The separation of chromosomes or chromatids in cell division so that each daughter cell gets an equal number of chromosomes.染色體分離：細胞分裂過程中染色體或染色質(zhì)的分離，使得每個子細胞獲得相同數(shù)目的染色體。Chromosome spread？The chromosomes of a dividing cell as seen under the microscope in metaphase or prometaphase.染色體鋪展：顯微鏡下的中期或前期分裂細胞的染色體形態(tài)。Cis？Refers to the relationship between two sequences that are on the same chromosome, literally meaning “on the near side of.” Contrast with trans.順式：指兩條序列位于同一條染色體上。相當于反式。Clinical heterogeneity？The term describing the occurrence of clinically different phenotypes from mutations in the same gene.臨床異質(zhì)性：同一基因突變的臨床表型差異現(xiàn)象。Clinical utility？In reference to a clinical laboratory test, the ability of that test to improve the medical care that an individual receives.臨床效用：指一種臨床實驗室檢測方法對改善個體醫(yī)療狀況的能力。Clinical validity？In reference to a clinical laboratory test, the ability of that test to detect the disease that the test was designed to detect.臨床效力：指一種臨床實驗室檢測方法正確檢測出疾病的能力。Clonal evolution？The multistep process of successive genetic changes that occur in a developing tumor cell population.克隆演變：腫瘤發(fā)展中的細胞群相繼發(fā)生遺傳改變的多步驟過程。Clone？1. A cell line derived by mitosis from a single ancestral diploid cell; in embryology, a cell lineage in which the cells have remained geographically close to each other. 2. In molecular biology, a recombinant DNA molecule containing a gene or other DNA sequence of interest. Also, the act of generating such a cell line or clone.克隆：.源自單個二倍