医学遗传学词汇英语术语英文(Glossary) 7

Pharmacodynamics --- The effects of a drug or its metabolites on physiological function and metabolic pathways.

药效学：药物或其代谢物在生理功能和代谢途径中的作用

Pharmacogenetics --- The area of biochemical genetics concerned with the impact of genetic variation on drug response and metabolism.

药物遗传学：主要研究遗传因素对物种内不同个体的药物吸收、分布、代谢的影响，尤其是由遗传因素引起的异常药物反应。

Pharmacogenomics --- The application of genomic information or methods to pharmacogenetic problems.

药物基因组学：将基因组学应用于药物遗传学的学科。

Pharmacokinetics --- The rate at which the body absorbs, transports, metabolizes, or excretes a drug or its metabolites.

药动学：身体吸收、转运、代谢、或分泌一种药物或其代谢物的速率。

Phase --- In an individual heterozygous at two syntenic loci, the designation of which allele at the first locus is on the same chromosome as which allele at the second locus. See coupling and repulsion.

相：两个共线基因座上的杂合子，其染色体上分布的等位基因的位置关系。参见互引相和互斥相。

Phenocopy --- A mimic of a phenotype that is usually determined by a specific genotype, produced instead by the interaction of some environmental factor with a normal genotype.

拟表型：环境改变所引起的表型改变，有时与由某基因引起的表型变化很相似的现象。

Phenotype --- The observed biochemical, physiological, and morphological characteristics of an individual, as determined by his or her genotype and the environment in which it is expressed. Also, in a more limited sense, the abnormalities resulting from a particular mutant gene.

表型：一个生物体（或细胞）可以观察到的性状或特征，是特定的基因型和环境相互作用的结果。

Philadelphia chromosome (Ph1) --- The structurally abnormal chromosome 22 that typically occurs in a proportion of the bone marrow cells in most patients with chronic myelogenous leukemia. The abnormality is a reciprocal translocation between the distal portion of 22q and the distal portion of 9q.

费城染色体（Ph1）：人类22号染色体长臂大部分易位至9号染色体长臂而变成一个很小的染色体，是慢性粒细胞白血病的标记染色体。

Physical map --- A map showing the order of genes and markers along a chromosome and their distances apart to units such as cytogenetic bands or base pairs. Physical mapping is performed by techniques such as radiation hybrid mapping, fluorescence in situ hybridization (FISH), and nucleotide sequencing, not by data from linkage analysis. See genetic map for comparison.

物理图：以DNA碱基对数目为距离单位标明遗传标记在DNA分子或染色体上所处位置的图谱。由放射杂交图谱、荧光原位杂交制图和核酸测序等技术绘制。勿混淆遗传图。

Plasmids --- Independently replicating, extrachromosomal circular DNA molecules in bacteria or yeast, used in molecular biology as vectors for cloned segments of DNA.

质粒：细菌细胞内能在染色体外独立复制的遗传因子。

Pleiotropy --- Multiple phenotypic effects of a single allele or pair of alleles. The term is used particularly when the effects are not obviously related.

多效性：一个基因对多种遗传性状产生影响的现象。

Pluripotent --- Describes an embryonic cell that is capable of giving rise to different types of differentiated tissues or structures, depending on its location and environmental influences.

多能性：一个细胞能够发育成多种但不是所有细胞类型的特性。

Point mutation --- A single nucleotide base pair change in DNA.

点突变：DNA中单个碱基对的改变。

Polyadenylation site --- In the synthesis of mature mRNA, a site at which a sequence of 20 to 200 adenosine residues (the polyA tail) is added to the 3’ end of an RNA transcript, aiding its transport out of the nucleus and, usually, its stability.

多腺苷酸化信号：在前体mRNA3′端指导添加poly（A）尾巴的核苷酸序列。

Polygenic --- Inheritance determined by many genes at different loci, with small additive effects; not to be confused with complex (multifactorial) inheritance, in which environmental as well as genetic factors may be involved.

多基因：由不同基因座的多个基因决定的遗传，有累加效应；与复杂（多因子）遗传有区别。

Polymerase chain reaction (PCR) --- The molecular genetic technique by which a short DNA or RNA sequence is amplified enormously by means of two flanking oligonucleotide primers used in repeated cycles of primer extension and DNA synthesis with DNA polymerase.

聚合酶链式反应（PCR）：体外模拟发生于细胞内的DNA快速扩增特定基因或DNA序列的复制过程的技术。

Polymorphism --- The occurrence together in a population of two or more alternative genotypes, each at a frequency greater than that which could be maintained by recurrent mutation alone. A locus is arbitrarily considered to be polymorphic if the rarer allele has a frequency of .01, so that the heterozygote frequency is at least .02. Any allele rarer than this is a rare variant.

多态性：指同一群体中存在有2种或以上可变基因型的现象，每种类型的比例应大于1﹪。

Polyploid --- Any multiple of the basic haploid chromosome number other than the diploid number; thus, 3n, 4n, and so forth.

多倍体：有三个或以上单倍体染色体组组成的细胞或个体。

Positional cloning --- The molecular cloning of a gene on the basis of knowledge of its map position, without prior knowledge of the gene product.

定位克隆：分析遗传家系，获得与特定性状（疾病）紧密连锁的遗传标记，并定位与染色体特定区域，借此得到目的基因的方法。

Positive predictive value --- With respect to a clinical test for a disease, the extent to which testing positive indicates that one has or will develop the disease.

阳性预测值：临床检测的衡量度。即检测结果为阳性时，个体可能患病的程度。

Preimplantation diagnosis --- A type of prenatal diagnosis in which a cell is removed from a multicell embryo generated by in vitro fertilization and tested for the presence of a disease-causing mutation.

植入前诊断：产前诊断的一种方法。取体外受精形成的胚胎的细胞来检测是否存在致病突变。

Premutation --- In unstable repeat disorders (e.g., fragile X syndrome), a moderate expansion of the number of repeats that is at increased risk of undergoing further expansion during meiosis and causing the full disorder in the offspring. Premutations can be asymptomatic, as in Huntington disease, or they may be associated with a distinct syndrome, such as the fragile X–associated tremor/ataxia syndrome in individuals with triplet repeat expansions in their FMR1 gene in the premutation range.

前突变：在不稳定重复序列遗传病（如脆性X综合征）中，重复次数会微量扩增，这是大量扩增和引起疾病的前兆。前突变的症状可能不同，如脆性X相关的震颤/共济失调综合征，患者的FMR1基因出现处于前突变范围的三联重复扩增。

Primary constriction --- See centromere.

主缢痕：参见着丝粒。

Primary structure --- The amino acid sequence of a polypeptide.

一级结构：多肽链的氨基酸序列。

Primary transcript --- The initial, unprocessed RNA transcript of a gene that is co-linear with the genomic DNA, containing introns as well as exons.

初级转录物：基因转录产生的未经剪接加工的RNA。

Primer --- A short oligonucleotide designed to hybridize to a single-stranded DNA template and provide a free DNA end to which DNA polymerase can add bases and synthesize DNA complementary to the template.

引物：含游离3′-羟基并在DNA聚合酶作用下引发聚合反应的寡核苷酸序列。

Proband --- The affected family member through whom the family is ascertained. Also called the propositus or index case.

先证者：在家系中最先发现具有某一特定性状或疾病的个体。英文又称propositus或index case。

Probe --- In molecular genetics, a labeled DNA or RNA sequence used to detect the presence of a complementary sequence by molecular hybridization; or a reagent capable of recognizing a desired clone in a mixture of many DNA or RNA sequences. Also, the process of using such a molecule.

探针：在分子杂交中用来检测互补序列的带有标记的单链DNA或RNA链。作动词时，意即用探针做杂交“探查“。

Prokaryote --- A simple unicellular organism, such as a bacterium, lacking a separate nucleus. See eukaryote.

原核生物：简单的单细胞生物。如细菌，无隔离的核。参见真核生物。

Promoter --- A DNA sequence located in the 5’ end of a gene at which transcription is initiated.

启动子：位于基因的5′端的DNA序列，是转录起始的位置。

Prophase --- The first stage of cell division, during which the chromosomes become visible as discrete structures and subsequently thicken and shorten. Prophase of the first meiotic division is further characterized by pairing (synapsis) of homologous chromosomes.

前期：细胞有丝分裂或减数分裂的第一个阶段。在此期间，染色质浓缩，出现早期染色体，核仁和核膜逐渐消失。

Propositus --- See proband.

女先证者：参见先证者。

Proteome --- anism at a particular time. Contrast with transcriptome, the collection of all RNA transcripts, and genome, the collection of all DNA sequences.

蛋白质组：由一个基因组所表达的全部相应的蛋白质。与转录组不同，转录组为一个基因组所转录的全部相应RNA。

Proteomics --- A field of biochemistry encompassing the comprehensive analysis and cataloguing of the structure and function of all the proteins present in a given cell or tissue (see proteome). Parallels genomics, a similarly comprehensive approach to the analysis of DNA sequence and mRNA expression.

蛋白质组学：研究细胞内全部蛋白质的组成、结构与功能的学科。参见基因组学。

Proto-oncogene --- A normal gene involved in some aspect of cell division or proliferation that may become activated by mutation or other mechanism to become an oncogene.

原癌基因：真核细胞基因组中被激活后可引起细胞分裂和增殖的一类正常基因。

Pseudoautosomal region --- Segment of the X and Y chromosome, located at the most distal portion of their respective p and q arms, at which crossing over occurs during male meiosis. Traits due to alleles at pseudoautosomal loci will appear to be inherited as autosomal traits despite the physical location of these loci on the sex chromosomes.

假常染色体区：在人类的X和Y染色体的长臂端部及短臂远端有高度同源的DNA序列的区段，常发生减数分裂配对的染色体互换。

Pseudodeficiency allele --- A clinically benign allele that has a reduction in functional activity detected by in vitro assays but that has sufficient activity in vivo to prevent haploinsufficiency.

假缺乏等位基因：检测发现功能活性下降，但体内活性尚可的临床表现为良性的等位基因。

Pseudogene --- 1. An inactive gene within a gene family, derived by mutation of an ancestral active gene and frequently located within the same region of the chromosome as its functional counterpart (nonprocessed pseudogene). 2. A DNA copy of an mRNA, created by retrotransposition and inserted randomly in the genome (processed pseudogene). Processed pseudogenes are probably never functional.

假基因：不产生有功能产物的基因。可分为2类：1. 未修饰假基因：为位于一个基因家族内的无效基因，源于一个有活性的祖先基因的突变，常位于染色体的同一区域内，作为其功能性副本。2. 修饰假基因：通过反转录转座作用并随机插入基因组形成的一个mRNA的DNA副本。修饰假基因可能从来都不具有功能。

Pseudomosaicism --- The occurrence of a single cytogenetically abnormal cell in a cytogenetic analysis of a chorionic villus sampling or amniocentesis specimen. Generally considered artifactual and of no clinical significance.

假镶嵌现象：在绒膜绒毛取样或羊水诊断的样本中，存在单个细胞遗传学异常的细胞，一般被认为是污染造成，没有临床意义。

q --- 1. In cytogenetics, the long arm of a chromosome. 2. In population genetics, the frequency of the less common allele of a pair.

q：1. 在细胞遗传学中，指染色体的长臂。2. 在群体遗传学中，指一对等位基因中较罕见的那个等位基因的频率。

Qualitative trait --- A trait that an individual either has or does not have. Contrast with quantitative trait.

质量性状：由一对或几对基因控制、不易受环境影响、表现为不连续变异的性状。质量性状的表型只有2种：“有”（患病）和“没有”（正常）。相对于数量性状。

Quantitative trait --- A measurable quantity that differs among different individuals, often following a normal distribution in the population. Contrast with qualitative trait.

数量性状：由多对基因控制、易受环境影响、呈现连续变异的性状。相对于质量性状。

Random mating --- Selection of a mate without regard to the genotype of the mate. In a randomly mating population, the frequencies of the various matings are determined solely by the frequencies of the alleles concerned.

随机交配：在有性生殖的生物中，一种性别的任何一个个体有相同的机会与相反性别的个体进行交配的方式。

Reading frame --- One of the three possible ways of reading a nucleotide sequence as a series of triplets. An open reading frame contains no termination codons and thus is potentially translatable into protein.

阅读框：以核苷酸三联体方式读取核苷酸序列的翻译信息。可读框不包含终止密码子，故都是可翻译为多肽链氨基酸的DNA序列。

Rearrangement --- Chromosome breakage followed by reconstitution in an abnormal combination. If unbalanced, the rearrangement can produce an abnormal phenotype.

重排：染色体结构改变造成遗传物质的重新排列。若为非平衡型重排，则可导致异常表型。

Recessive --- A trait that is expressed only in homozygotes, compound heterozygotes, or hemizygotes.

隐性：在杂合状态下，隐性等位基因支配的性状不表现的现象。

Reciprocal translocation --- See translocation.

相互易位：参见易位。

Recombinant --- An individual who has a new combination of alleles not found in either parent.

重组体：不同来源的DNA组合成的分子

Recombinant chromosome --- A chromosome that results from exchange of reciprocal segments by crossing over between a homologous pair of parental chromosomes during meiosis.

重组染色体：在减数分裂时期，亲代同源染色体交换后形成的染色体。

Recombinant DNA technology --- Methods by which a DNA molecule is constructed in vitro from segments from more than one parental DNA molecule.

重组DNA技术：通过体外操作将不同来源的DNA重新组合以获得新功能分子的技术。

Recombination --- The formation of new combinations of alleles in coupling by crossing over between their loci.

重组：由于基因的自由组合或交换产生新的基因组合的过程。

Recombination fraction (θ) --- The fraction of offspring of a parent heterozygous at two loci who have inherited a chromosome carrying a recombination between the loci.

重组率（θ）：重组体的数目除以后代总数。用于表示基因座或突变位点间的相对距离。

Recurrence risk --- The probability that a genetic disorder present in one or more members of a family will recur in another member of the same or a subsequent generation.

再发风险：一个家系中已出现一个或多个遗传病患者，在此基础上，根据遗传病的遗传方式及流行病学特征推算出另一家系成员再发同样疾病的可能性大小。

Reduction division --- The first meiotic division, so called because at this stage the chromosome number per cell is reduced from diploid to haploid.

减数分裂：第一次减数分裂，每个细胞的染色体数目从二倍性减少为单倍性。

Redundancy --- The situation in which genes (often paralogous) have overlapping functions.

冗余：基因（常为种内同源基因）间功能有重叠的现象。

Regulative development --- A developmental stage during which removal or destruction of a particular region of the embryo is compensated for by other embryonic regions, thereby allowing normal development.

调整式发育：移除或破坏胚胎的某一特定区域，不会影响最终发育结果的一个发育阶段。

Regulatory gene --- A gene that codes for an RNA or protein molecule that regulates the expression of other genes.

调节基因：编码的RNA或蛋白质调控其它基因表达的一类基因。

Regulatory region of a gene --- A DNA segment, such as a promoter, enhancer, or locus control region, within or near a gene that regulates the expression of the gene.

基因的调节位点：在基因附近或在基因内的一段 DNA 片段（如启动子、增强子或基因座控制区），可调控基因的表达。