遗传学名词解释

遗传学名词解释 吕方超1 TermsTerms ofof MedicalMedical GeneticsGenetics 1 Genome1 Genome 基因组基因组 The complete DNA sequence containing the entire genetic information of a gamete 配子 an individual a population 种群 or a species 2 2 GenomicsGenomics 基因组学基因组学 The field of genetics concerned with structural and functional studies of the genome 3 Exon3 Exon 外显子外显子 Encoding 编码 sequences corresponding to the sequence of mRNA 4 Intron4 Intron 内含子内含子 Non encoding sequences corresponding 对应的 RNA sequence will be removed from mRNA 5 Allele5 Allele 等位基因等位基因 One of the different forms of a gene pair At each autosomal locus 常染 色体基因座 an individual possessed two alleles one inherited from mum and one from dad 6 6 GenotypeGenotype 基因型基因型 1 The combination of alleles that an individual possesses 2 The genetic constitution 遗传组成 of the individual the characterization 特征记述 of the genes 3 A genotype is the genetic makeup of a person 祁鸣 7 7 PhenotypePhenotype 表现型表现型 1 The physical characteristics of a cell or organism as defined by its genetic constitution 基因组成 2 The outward appearance of the individual It is the product of interactions between genes and between the genotype 遗传型 and the environment 3 A phenotype is the physical manifestation of an inherited trait or disease 祁鸣 8 8 HousekeepingHousekeeping genegene 管家基因管家基因 Genes which express proteins common to all cells e g Ribosomal 核醣体的 chromosomal 染色体 and cytoskeletal proteins 生物 细胞骨架蛋白 9 9 LuxuryLuxury genegene 奢侈基因奢侈基因 组织特异性基因 are those coding for specialized functions synthesized 合成 usually in large amounts in particular cell types 特定类型细胞中为其执 行特定功能蛋白质编码的基因 只在特定类型细胞中表达的基因 10 10 OMIMOMIM Online access to McKusick s catalogue Online Mendelian Inheritance 孟德尔遗传 inMan an invaluable resource for clinical genetic information with a wealth of links to many other resources OMIM 为 0nline Mendelian Inheritance in Man 的简称 意即 在线 人类盂德尔遗传 或 网上 人类盂德尔遗传 持续更新的关于人类基因和遗传紊乱的数据库 主要着眼于可遗传的或遗传性的基因疾病 包括文本信息和相关参考信息 序列纪录 图谱和相关其 他数据库 遗传学名词解释 吕方超2 11 11 SplitSplit genesgenes 分裂基因分裂基因 1 Structural genes in eukaryote ju k ri ut 真核生物 are split genes with two kinds of sequences although it is continuous in prokaryote 原核生物 2 Specific sequences of nucleotides 核苷酸类 along a molecule 分子 of DNA or in the case of some viruses RNA which represent the functional units 功能单位 of heredity 遗传 The majority of eukaryotic genes contain coding regions 编码区 CODONS that are interrupted by non coding regions 非编码区 INTRONS and are therefore labeled split genes 12 12 SenseSense strandstrand 有意义链有意义链 Strand of genomic DNA to which the mRNA is identical 同一的 Untranscribed 不转录 strand of the gene 5 to 3 is called as coding or sense for the corresponding codes in RNA 基因的双链结构中 用来转录的链叫反义链 不用来转录的叫 有意链 13 13 AntisensestrandAntisensestrand 反义链反义链 The template strand 模版链 of DNA The transcribed strand of the gene is in a 3 to 5 direction is referred as non coding or antisense 14 Euchromatin14 Euchromatin 常染色质常染色质 1 Slightly and evenly 均匀的 stained non or low repetitive DNA regions The major component 原件 of chromatin 2 Chromosome regions that are loosely packaged and more accessible to RNA polymerases 聚合酶类 than heterochromatin These regions also stain differentially in chromosome bandingpreparations 15 15 HeterochromatinHeterochromatin 异染色质异染色质 1 Darkly and unevenly stained highly repetitive 高度重复 DNAregions 2 The portion 部分 of chromosome material that remains condensed 聚集浓缩的 and is transcriptionally inactive during interphase 分裂期 16 16 KaryotypeKaryotype 染色体组型染色体组型 The number size and shape of the chromosomes 同源染色体 of an individual Also used for the photomicrograph 显微照片 of an individual s chromosomes arranged in a standard manner 17 17 RobertsonianRobertsonian TranslocationTranslocation 罗伯逊易位罗伯逊易位 Two acrocentric chromosomes 近端点着丝粒染色体 fuse 断裂 near the centromere region with loss of the short arms which carry multiple copies of genes for rRNA 非同源染色体端着丝粒之间融合 或两个近端着丝粒染色体相互易位而形 成一个染色体 一种特殊类型的交互易位 两个端部着丝粒的染色体在着丝粒处发生断裂以后 一个 染色体的长臂与另一条染色体的短臂发生交换 结果形成一个大的染色体和一个由两个短臂愈合而成 较小的染色体 后者在减数分裂过程中丢失 并且在丢失以后 对该易位染色体的生长发育没有明显 的影响 遗传学名词解释 吕方超3 18 18 ProbandProband 先证者先证者 The family member who first bring a family to the attention of an investigator is proband 19 19 GeneticGenetic HeterogeneityHeterogeneity遗传异质性遗传异质性 1 The phenomenon that a disorder can be caused by different allelic or non allelic mutations 2 The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms 遗传机制 are involved in different pedigrees 纯种系谱 In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects 遗 传缺陷 which cause the same disease often due to mutations at different loci 基因座 on the same gene a finding common to many human diseases including alzheimer disease 阿尔茨 海默病 老年性痴呆 cystic fibrosis 囊性纤维化 lipoprotein lipase脂蛋白脂酶 deficiency familial 家族性 and Polycystic Kidney Diseases 多囊肾疾病 遗传异质性 heterogeneity 是指 表现型一致的个体或同种疾病临床表现相同 但可能具有不同的基因型 称为遗传异质性 20 Expressivity20 Expressivity 表现度表现度 Variation 变异 in the severity of the phenotypic features of a particular gene 表现度 expressivity 基因的作用作为个体表现型所出现的程度称为表现度 21 21 PenetrancePenetrance 外显率外显率 1 The proportion 比例 of heterozygotesheterozygotes 杂合子 for a dominant gene 显 性基因 who express a trait even if mildly 温和的 2 The percent frequency with which a dominant 占主要优势的 or homozygous recessive 纯合子隐性 gene or gene combination manifests itself in the phenotype of the carriers 22 Sex limitation22 Sex limitation 限性限性 When a trait is only manifest 显示 in individuals of one sex 23 23 Sex influenceSex influence 偏性偏性 When a genetic trait 遗传性状 is expressed more frequently in one sex than another 24 24 geneticgenetic imprintingimprinting 遗传印记遗传印记 1 The phenomenon of a gene or region of a chromosome showing different expression depending on the parent of origin 2 The variable phenotypic expression of a GENE depending on whether it is of paternal 父源的 or maternal 母源的 origin 起因 which is a function of the DNA Methylation pattern Imprinted regions are observed to be more methylated and less transcriptionally active 遗传印记一般发生在哺乳动 物的配子形成期 并且是可逆的 它不是一种突变 也不是永久性的变化 它是特异性的对源于父亲或 母亲的等位基因做一个印记 时期只表达父源或母源的等位基因 使之在子代中产生不同表型 25 25 AnticipationAnticipation 遗传早现遗传早现 The tendency for some AD diseases to manifest 显示 at an earlier 遗传学名词解释 吕方超4 age and or to increase in severity with each succeeding generation 26 26 GeneticGenetic SusceptibilitySusceptibility 遗传易感性遗传易感性 An inherited predisposition 倾向 to a disease or disorder which is not due to a single gene cause and is usually the result of a complex interaction of the effects of multiple different genes i e 换言之 polygenic inheritance 多基因遗传 27 27 LiabilityLiability 易患性易患性 A concept 概念 used in disorders which are multifactorially 多因子的 determined to take into account all possible causative factors 诱发因素 28 Hardy28 Hardy Weinberg Weinberg equilibriumequilibrium 遗传平衡定律遗传平衡定律 It implies that gene and genotype frequencies 基因型频率 are constant from generation to generation 世代相传 H W law rests on 依赖 several assumptions 假设 large population random mating 随机交配 no mutations no migration between populations no selection all genotypes reproduce with equal success 29 29 GeneGene poolpool 基因库基因库 1 the genetic constitution of a population of a given organism All the genes of all the individuals in population make up the gene pool 2 The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms 生物体 30 Genetic30 Genetic DriftDrift 遗传漂变遗传漂变 Fluctuation 波动 in allele frequency due to chance in a small population 由于群体大小有限造成基因频率的随机波动 漂变在所有群体中都能出现 但在小群体更 明显 31 Heterozygote31 Heterozygote AdvantageAdvantage 杂种优势杂种优势 1 Mutant allele 突变体等位基因 has a high frequency despite 任凭 reduced fitness in affected individuals 2 The adaptive superiority 优越性 of the heterozygous GENOTYPE with respect to 关于 就 而论 one or more characters in comparison with the corresponding homozygote 纯合子 32 32 HomoplasmyHomoplasmy 同质性同质性 The presence of only one type of mtDNA 线粒体 RNA in the mitochondria 线粒体 of a single individual 33 Heteroplasmy33 Heteroplasmy 异质性异质性 The presence of more than one type of mtDNA in the mitochondria of a single individual 34 34 MolecularMolecular DiseaseDisease 分子病分子病 A disease in which there is an abnormality in or a deficiency 缺乏 of a particular molecule such as hemoglobin 血红蛋白 in sickle cell anemia 镰状细胞 性贫血 遗传学名词解释 吕方超5 35 35 GeneGene clustercluster 基因簇基因簇 A group of adjacent 邻近的 genes which are identical or related 36 36 PseudogenePseudogene 假基因假基因 1 DNA sequence homologous 同源的 with a known gene but is non functional 2 Genes bearing close resemblance 相似性 to known genes at different loci 基因 座 but rendered non functional by additions or deletions in structure that prevent normal transcription or translation When lacking introns and containing a poly A segment 节段 near the downstream 输出管 end as a result of reverse 颠倒 copying from processed nuclear RNA into double stranded 多股的 DNA they are called processed genes 37 37 InbornInborn ErrorError ofof MetabolismMetabolism 先天代谢错误缺陷先天代谢错误缺陷 1 Any of a group of congenital disorders 先天性障碍 caused by an inherited defect in a single specific enzyme 酶 that results in a disruption 断裂 or abnormality in a specific metabolic 代谢途径 pathway 2 Diseases existing at birth and often before birth or that develop during the first month of life INFANT 婴儿 NEWBORN DISEASES regardless of causation Of these diseases those characterized by structural deformities 结构变形 are termed abnormality 38 38 HaplotypeHaplotype 单倍体单倍体 1 A group of alleles in coupling 结合 动 交尾 at closely linked loci usually inherited as a unit 2 The genetic constitution of individuals with respect to one member of a pair of allelic genes or sets of genes that are closely linked and tend to be inherited together such as those of the Major Histocompatibility Complex 主要组 织相容性复合物 39 39 PharmacogenomicsPharmacogenomics 药物基因组学药物基因组学 1 is the study of the variability 变异性 of the expression of individual genes relevant to disease susceptibility 疾病易感性 as well as drug response at cellular tissue individual or population level 2 A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism 药物代谢作用 40 40 SNPSNP 单核苷酸多态性单核苷酸多态性 A change in which a single base in the DNA differs from the usual base at that position 41 41 LOH lossLOH loss ofof heterozygosity heterozygosity 杂合性缺失杂合性缺失 1 Loss of a normal allele from a region 基因座 控制区 of one ch