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:1.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。2.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 individual’s 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22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(BAC):能够携带100~300kb人类DNA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DNA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C带、G带、Q带和R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X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(bp):双链DNA上的一对互补碱基对。用于表示DNA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 probability1-p=q, 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p,另一种为1-p=q,则p和q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:mRNA链5′端的核苷酸修饰,为mRNA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DNA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,X-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DNA。
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2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。