医学遗传学词汇英语术语英文(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.剪接受体位点：内含子3末端与下一个外显子5端之间的交界处。又称3剪接位点。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.近端着丝粒（染色体）：着丝粒位于接近染色体臂端部的染色体。人类近端着丝粒染色体（第13、14、15、21和22号）短臂的随体携带有编码核糖体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.逆向选择：保险业的专有名词，指投保人知晓其有较高的患病、残疾或死亡风险，但隐瞒真相购买相关保险。因此，根据人群平均风险制定的保险费不足以支付相关费用。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.患病家系成员法：一种不用模型的连锁分析方法。系统性地分析同患疾病的家系成员共享同一基因座等位基因的频率是否高于随机计算值。若为胞亲，则称为连锁分析的患病胞对法。Allele？One of the alternative versions of a gene or DNA sequence at a given locus.等位基因：在一对同源染色体的同一基因座上的两个不同形式的基因。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.等位基因特异的寡核苷酸（ASO）：与基因点突变热点区互补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：免疫球蛋白的杂合子只表达一对等位基因中的一个的现象。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.等位基因异质性 ：一个基因有多种突变，产生多种异常表型的现象。个体相同或相似的表型，可能是由不同的突变等位基因引起，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).同种异型 ：在移植中表示同种个体（或组织），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）：一种分泌入羊水的胎儿糖蛋白。当胎儿罹患某种疾病（尤其是开放性神经管缺陷）时，羊水（和产妇血清）中的甲胎蛋白浓度呈现异常。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重复序列：人类基因组中，约10的DNA是由1000000多种分散的相关序列组成，每种长约300bp，因序列中有限制性内切酶AluI.的切点而得名。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：一种获得羊水以进行产前诊断的方法。羊水中有胎儿细胞，可培养以进行分析检测。用穿刺针自孕妇的腹壁穿入胎儿的羊膜腔中，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).扩增：1. 在分子生物学中，指某DNA序列的多个拷贝产物。2. 在细胞遗传学中，指能够用比较基因组杂交（CGH）检测到的多个拷贝序列。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：指临床实验室检测的准确度。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：细胞中染色体的数目不是染色体基数的整倍数的状态。人类常见的非整倍性如三体（一条染色体多余）和单体（一条染色体缺失）。Anomalies？Birth defects resulting from malformations, deformations, or disruptions.异常：指畸形、变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.遗传早现：某种遗传病的症状一代比一代严重，而且发病时间一代早于一代。由疾病相关基因的不稳定重复片段的扩增引起。Anticodon？A three-base unit of RNA complementary to a codon in mRNA.反密码子：tRNA中与mRNA密码子反向互补的三核苷酸序列。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.反义DNA链：即非编码的那条DNA链，与mRNA互补，为RNA合成的模板。又称转录链。Apoptosis？Programmed cell death characterized by a stereotypic pattern of mitochondrial breakdown and chromatin degradation.细胞凋亡 ：即 程序性细胞死亡，由生理或病理信号引发的自主性的细胞清除过程。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.阵列CGH：将大量核苷酸矩阵排布于由玻璃、塑料或硅制成的晶片上，并与之杂交的比较基因组杂交方法。见“微阵列”。Ascertainment？The method of selection of individuals for inclusion in a genetic study.确认：发现并选出有某种遗传病的家系。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.确认偏倚：确定患者亲属与对照组亲属的患病情况而出现的差错。是家系研究出现差错的原因之一。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.关联：.在遗传流行病学中，指某特异等位基因在患者群体中出现的频率显著异常，需与连锁相区分。.在畸形学中，指一组未知病因、病理异常同现的几率较高。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).选型交配：选择与某种基因型的个体交配；即非随机交配。常见正向选择（与相同基因型的交配），罕见负向选择（与不同基因型的交配）。Assortment？The random distribution of different combinations of the parental chromosomes to the gametes. Nonallelic genes assort independently, unless they are linked.组合：亲代染色体在配子中的随机组合。非连锁的非等位基因进行自由组合。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.自身免疫性疾病：对自身组织抗原产生异常免疫反应的疾病；一般认为由免疫反应基因的多态性变异所致。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.自体的：指同一生物体内的移植物，或指个体自身的恶性细胞和细胞。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.常染色体：染色体组中除性染色体以外的所有染色体；人类核型中共有对。常染色体基因或基因对发生突变导致的疾病呈常染色体遗传。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.细菌人工染色体（）：能够携带人类的克隆载体；在细菌中繁殖，可用于绘制高分辨率基因图谱和测序。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.平衡多态性：多态性在群体中持续保持的现象。方式是通过杂合子优势，使得某一即使是在纯合状态下有害的等位基因在群体中保持相对的高频率。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.显带：用特殊的染色方法使染色体沿纵长的方向出现特定型式的横纹，用于确定染色体数目和结构异常。详见正文中的带、带、带和带。Barr body？The sex chromatin as seen in female somatic cells, representing an inactive X chromosome.Barr小体：女性体细胞中的性染色质，即为失活的染色体。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.碱基对（）：双链上的一对互补碱基对。用于表示序列的长度。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：广泛应用于遗传咨询中计算再发风险的一个数学定理。这种方法将几种信息（遗传学、系谱信息和检测结果）综合起来，以计算某个体罹患或遗传某种疾病的概率。Beneficence？The ethical principle of behaving in a way that promotes the well-being of others. See maleficence.慈善：维护他人健康的伦理行为准则。参见恶行。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.二项展开式：若一种情况出现的概率为，另一种为，则和组合出现的概率为（p+q）2的二项展开式。Bioinformatics？Computational analysis and storage of biological and experimental data, widely applied to genomic and proteomic studies.生物信息学：运用计算机分析和贮存生物学和实验数据，已被广泛运用于基因组学和蛋白组学的研究。Birth defect？An abnormality present at birth, not necessarily genetic.出生缺陷：出生即带的异常，并非都是遗传性的。Bivalent？A pair of homologous chromosomes in association, as seen at metaphase of the first meiotic division.二价体：发生联会时的一对同源染色体，见于第一次减数分裂的中期。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：早期胚胎发育阶段，受精卵连续分裂，形成桑葚胚，桑葚胚空腔化形成囊胚腔，内细胞团位于腔体的一端。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：由红细胞表面抗原所决定的血型抗原类型。一组等位基因所决定的抗原组成了血型系统。Cap？A modified nucleotide added to the 5 end of a growing mRNA chain, required for normal processing, stability, and translation of mRNA.帽：链端的核苷酸修饰，为正常加工、稳定和翻译所必需。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：通过修复损伤和维持基因组完整性，防止原癌基因和看门类肿瘤抑制基因的突变而导致癌症，从而间接控制细胞增殖的肿瘤抑制基因，。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).携带者：特定突变等位基因的杂合子。可指常染色体隐性等位基因的杂合子，-连锁等位基因的女性杂合子，未表达的常染色体显性等位基因的杂合子（较少用。如症状前阶段的Huntington舞蹈症等位基因的杂合子）。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-对照研究：一种流行病学方法，即将罹患某种疾病的患者（病例组）与对应的正常个体（对照组）进行比较，分析各种风险因素的相对频率。cDNA？See complementary DNA.cDNA：参见互补。Cell cycle？The stages between two successive mitotic divisions, described in the text. Consists of the G1, S, G2, and M stages.细胞周期：细胞从一次分裂结束到下一次分裂结束为止的一个过程。由G1期、S期、G2期和 M期组成。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）：染色体基因间的距离单位，以Thomas Hunt Morgan命名。若个基因座间发生1%的减数分裂重组，则相距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.着丝粒：染色体的主缢痕，使姐妹染色单体连在一起，在其两侧各有一个由蛋白构成的动粒。为有丝分裂和减数分裂中的正常分离所需。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.中心体：由一对中心粒组成的细胞结构，是动物细胞的主要微管形成中心。可见于前期晚期分裂细胞的两极。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）岛：含双核苷酸序列5-CG-3较多的区域。通常与基因（尤其是持家基因）的启动子有关。CGH？See comparative genome hybridization.CGH：参见比较基因组杂交。Chain termination mutation？A mutation that generates a stop codon, thus preventing further synthesis of the polypeptide chain.链终止突变：形成终止密码子的突变，因而终止了多肽链的继续合成。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.检查点：细胞周期的监控机制，通常在G1 期与S 期，或G2期与 M期之间，决定细胞是否进入下一个周期。Chemical individuality？A term coined by Archibald Garrod to describe the naturally occurring differences in the genetic and biochemical makeup of each individual.药品个体化：由Archibald Garrod提出，形容每位个体遗传和生化构成的不同。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：在减数分裂前期的双线期，联会复合体中非姐妹染色单体之间发生了互换，互换的连接点称为交叉。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.【异源】嵌合体：由来自不同基因型的合子演变而来的两个或多个不同的细胞系混合构成的个体。在人类，二卵双生子在子宫中交换造血干细胞，而导致血型嵌合体；双精嵌合体十分罕见，两个受精卵融合为一个个体所致。移植必定导致嵌合现象。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.绒膜绒毛取样（CVS）：妊娠周时进行产前诊断的一种方法。在超声指导下，通过宫颈或腹壁取得绒膜绒毛，以进行胎儿组织分析。Chromatids？The two parallel strands of chromatin, connected at the centromere, that constitute a chromosome after DNA synthesis.染色单体：染色体复制后仍由同一个着丝粒连在一起的两条子染色体。Chromatin？The complex of DNA and proteins of which chromosomes are composed. See also nucleosome.染色质：和组蛋白的复合物。参见核小体。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.染色体随体：染色质的一小部分，含有核糖体基因，位于近端着丝粒染色体的短臂染色质末端；勿与卫星混淆。Chromosome？One of the threadlike structures in the cell nucleus; consists of chromatin and carries genetic information (DNA).染色体：细胞核中的线形结构；由染色质构成，携带遗传信息（）。Chromosome disorder？A clinical condition caused by an abnormal chromosome constitution in which there is duplication, loss, or rearrangement of chromosomal material.染色体病：染色体结构和数目异常引起的遗传病，包括染色体的重复、丢失和重排等。Chromosome mutation？A change in the genetic material at the chromosome level.染色体突变：染色体水平的遗传物质改变。Chromosome painting probe？A multilocus probe designed for fluorescence in situ hybridization (FISH) that hybridizes to only one particular chromosome or chromosome arm.染色体涂染探针：用于荧光原位杂交（FISH）的多基因座探针，只与某一染色体或染色体臂杂交。Chromosome segregation？The separation of chromosomes or chromatids in cell division so that each daughter cell gets an equal number of chromosomes.染色体分离：细胞分裂过程中染色体或染色质的分离，使得每个子细胞获得相同数目的染色体。Chromosome spread？The chromosomes of a dividing cell as seen under the microscope in metaphase or prometaphase.染色体铺展：显微镜下的中期或前期分裂细胞的染色体形态。Cis？Refers to the relationship between two sequences that are on the same chromosome, literally meaning “on the near side of.” Contrast with trans.顺式：指两条序列位于同一条染色体上。相当于反式。Clinical heterogeneity？The term describing the occurrence of clinically different phenotypes from mutations in the same gene.临床异质性：同一基因突变的临床表型差异现象。Clinical utility？In reference to a clinical laboratory test, the ability of that test to improve the medical care that an individual receives.临床效用：指一种临床实验室检测方法对改善个体医疗状况的能力。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.临床效力：指一种临床实验室检测方法正确检测出疾病的能力。Clonal evolution？The multistep process of successive genetic changes that occur in a developing tumor cell population.克隆演变：肿瘤发展中的细胞群相继发生遗传改变的多步骤过程。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：.源自单个二倍