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遗传学名词解释

作者:高考题库网
来源:https://www.bjmy2z.cn/gaokao
2020-10-22 12:33
tags:present的意思

棂怎么读-有所作为

2020年10月22日发(作者:焦希淑)


Heredity:A procedure that living things duplicate themselves in a model similar to their
parents.
遗传:一个生物从亲本中获得相似模式的过程。
Variation:The differences of individuals resulted from genetic recombination,
environmental modification and genetic mutation.
变异:由于遗传重组、环境修饰和基因变异导致的个体差异。

Gene: A hereditary unit; a sequence of chromosomal DNA that is required for the
production of a functional product.
基因:一种遗传单位;一种用于产生功能性产品所需的染色体序列。
Genome: The complete DNA sequence, containing the entire genetic information, of a
gamete, an individual, a population, or a species.
基因组:完整的DNA序列,包含一个配子,一个人,一个群体,或一个物种的整套基因信
息。
Genomics: The field of genetics concerned with structural and functional studies of the
genome.
基因组学:研究基因组结构和功能的遗传学领域。

Allele: One of the different forms of a gene pair. At each autosomal locus an individual
possessed two alleles, one inherited from mum and one from dad.
等位基因:基因对的不同形式之一。在每个常染色体显性遗传 位点,每个个体具有2个等
位基因,一个从母亲继承、一个来自父亲
Genotype: The combination of alleles that an individual possesses.
基因型:一个个体具有的等位基因的集合。
Phenotype: The physical characteristics of a cell or organism as defined by its genetic
constitution.
表型:细胞或机体由其遗传结构定义的物理特性。

Housekeeping gene: Genes which express proteins common to all cells, e.g. ribosomal,
chromosomal and cytoskeletal proteins. (β-actin)
管家基因:在所有细胞中表达 蛋白质的基因,如核糖体、染色体和细胞骨架蛋白。(α-肌动
蛋白基因)
Luxury gene: are those coding for specialized functions synthesized (usually) in large
amounts in particular cell types. (e.g., keratin in skin, Hb in RBC)
奢侈基因:是那些编码在大量特定的细胞类型中合成的有特殊功能(通常)蛋白的基因 。(例
如,皮肤中的角蛋白基因,红细胞中的血红蛋白基因)

Classification of genetic disorders:遗传障碍分类:
Chromosome disorders染色体异常、Single-gene disorders单基因异常、Complex
(multifactorial, polygenic) disorders复杂的(多因素,多基因)障碍、Somatic cell genetic
disorders体细胞遗传病、Mitochondrial genetic disorders线粒体遗传障碍。

Congenital Disease: Present at birth; not necessarily genetic.
先天性疾病:在出生时表现出来,不一定是遗传。


Familial Disease: Any trait that is more common in relatives of an affected individual than in
the general population, whether the cause is genetic, environmental, or both.
家族性疾病:在患者亲属中比 在一般人群中更为常见的任何性状,无论发病原因是遗传,
环境,还是两者都有。

Epigenetics :Heritable change in patterns of gene expression.
表观遗传学:基因表达模式的可遗传变化。

An adult organism has an estimated 10^14 cells. Cell types: >200 Cells = 2 organisms:
nucleus – cytosol + mt.(核-质+线粒体)
Human Genome: Total genetic information in a living organism. Total genes in a haploidy
set of chromosomes. 3.1×10^9 bp .Enough for encoding:1.5×106 proteins
人类基因组:生物体内的遗传信息。在单倍体染色体组基因。长3.1 – 109.足够的编码:1.5
– 10^6种蛋白。

Gene: a basic unit of heredity
基因:遗传的基本单位
Chemically: A specific DNA fragment, which can be duplicated and mutated.
化学:一种特殊的脱氧核糖核酸片段,它可以复制和变异。
In physics: Arranged on chromosome linearly, can be exchanged and transmitted to the next
generation.
在物理上:排列在染色体上,可以进行交换,并传送到下一代。
Functionally: Controlling the expression of specific characteristics of a living organism.
功能:控制生物体的特定特征的表达。

Structural genes:Genes directing the synthesizing proteins
结构基因:合成蛋白质的基因
Only about ~ 20 000 – 25 000 pr.-
coding genes (~ 20 000 – 25 000 noncoding RNA genes) ,1.5%~2% of genome, Normally in
non-repetitive or low repetitive DNA。
大约只有20 000 25 000 ~–PR编码基因(~ 20 000 25 000非编码RNA基因–)占基因组的
1.5%、2%,通常在非重复或低重复的DNA序列中。

The regions of non-structural genes
非结构基因的区域
Spacer sequences: Non-encoding region, probably, regulatory genes for DNA duplication,
transcription and mRNA translation
间隔序列:非编码区,可能是基因复制,转录和翻译的调控基因
Others: Insertion sequence, highly repetitive sequence, inverted repetitive sequences and
sporadic moderately repetitive and low- repetitive DNA
其他:插入序列,高度重复序列,反向重复序列和零星的中度重复和低重复的DNA。

Gene structure:1、 Gene is splited, alternate with the exons and the introns. 2、Gene can be
expanded, including the regulatory regions on both sides which are required for initiating


and terminating gene expression sometimes.
基因结构:1、基因分裂,相间的外显子和内含子。2、基因可以被扩展,包括 对启动和终
止基因表达的调控区域,有时。

Split Gene:Structural genes in eukaryote are split genes with two kinds of sequences,
although it is continuous in prokaryote.
分裂基因:在真核生物的结构基因是两种序列断裂基因,在原核生物是连续的。
Exon: Encoding sequences, corresponding to the sequence of mRNA。Their mutations will
influence the formation of proteins.
外显子:编码序列,对应mRNA的序列。其突变会影响蛋白质的形成。
Intron (IVS): Non-encoding sequences, corresponding RNA sequence will be removed from
mRNA. Their mutations do not affect the protein formation and structures normally.
However, sometimes, the mutation may influence the splicing of RNA and affect the
production of mRNA
内含子(IVS):非编码 序列,相应的RNA序列将从mRNA被切除。其突变不影响蛋白质
的形成和结构,但有时这种突变会影 响核糖核酸的剪接,影响基因的表达。
Transcription starts and terminates on the exons, therefore, the numbers of exons and
introns in a gene are N and N -1 respectively. The numbers of exons and introns in a gene is
significantly variable.
转录启动和终止于 外显子,因此,在一个基因的外显子和内含子的数目分别为N和N-1。
基因外显子和内含子的数目是可 变的:

Flanking sequence: 1、Gene can be expanded, including the regulatory regions on both sides
which are required for initiating and terminating gene expression sometimes 2、Promoter,
Enhancer, Terminator
侧翼序列:基因可以被扩展,包括对启动和终止 基因表达的调控区域;包括启动子,增强
剂,终止子。
Splice site In the junction region of intron and exon. 5’ intron: splice donor site. 3’ intron:
splice acceptor site. Intron always sarts at GT … and ends at …AG: GT-AG Rule
剪切位点:在内含子和外显子交界区5’内含子:剪接供体位点,3’内含 子:剪接受体位点。
内含子总是以GT开始以AG结束(GT-AG规则)。

Transcription begins near promoter sites and ends at terminator sites.
转录起始位点在启动子附近,终止位点在终止 子附近。启动子是RNA聚合酶(polymerase)
结合区。如TATA box,CAAT box,GC box. 终止子由反向重复序列和特定的5′- aataaa-3′
序列,构成polyA尾。
Enhancer : A DNA sequence enhancing the promoter function.
增强子:增强启动子功能的基因序列。
Promoter-specific: only enhancing the transcription of gene in which the promoter is
corresponding with the enhancer.
启动子的特异性:只有增强启动子与增强子对应的基因的转录。
Tissue- specific: Immunoglobulin gene enhancer is only functioned actively in B lymphocyte.
组织特异性:免疫球蛋白基因增强因子仅在淋巴细胞中发挥作用。


A mutation is a structural change in genomic DNA sequence due to errors in DNA
replication or repair.
突变是由于染色体复制或修复过程中的错误导致基因组序列的结构变化。
Structural classification of mutations
1. Point mutations: change in one base pair of DNA.
(1) silent mutations: changes in DNA which do not affect protein expression or function.
(2) missense mutations: changes in DNA which lead to a change in an amino acid.
(3) nonsense mutations: changes in DNA which generate a termination codon and thus stop
translation.
(4) Regulatory mutations: one which involves the promoter or another regulatory sequence
such as an enhancer, silencer, or locus control region.
(5) RNA processing mutations: These affect the processing of the primary RNA transcript to
form mRNA, either by altering normal RNA splicing or by preventing either normal
5’-capping or 3’-polyadenylation.
(6)Frameshift mutation
突变结构分类
1、点突变:一个碱基对的变化。
(1)沉默突变:不影响蛋白质表达或功能的基因的变化。
(2)错义突变:DNA导致一个氨基酸的变化。
(3)无意义的突变:产生终止密码子的突变,从而停止翻译。
(4)监管的突变:一个涉及启动子或其他调控序列如增强子,沉默,或轨迹控制区。
(5) RNA处理突变:这些影响初级RNA转录成mRNA的加工,通过改变正常的RNA剪
接或防止正常5 ’或3’-多聚腺苷酸化封盖。
(6)移码突变:增加或缺失一个碱基。

2. Deletions and insertions:
(1)small deletions and insertions: If the number of nucleotides deleted or inserted in an
exon is not a multiple of three, then the sequence of codons, known as the reading frame, is
disrupted. This is referred to as a frame-shift → a truncated protein.
(2)large deletions and insertions: These range in size from 20 bp to 10 Mb, beyond which
they become visible using a light microscope and are classified as chromosome
abnormalities.
(3)unequal crossing-over: Crossing-over between misaligned closely adjacent sequences
which show close homology results in the formation of a deletion in one chromatid and a
duplication in the other.
(4) retrotransposition: Transposable elements, SINES and LINES, which have moved from
an inert region of the genome to become inserted into an exon elsewhere.
2、缺失与插入:
(1)小的缺失和插入:如果核苷酸缺 失或插入外显子数不是三的倍数,然后密码子的序列,
称为阅读框,中断。这被称为移→截短蛋白。 < br>(2)大的缺失和插入:这些范围从20个基点至10兆,超过它们成为可见光镜和被归类为
染色 体异常。
(3)不平等的跨越:跨越之间的失调紧密相邻的序列高度同源的结果显示在一个缺失的形< br>成在一个染色单体和复制在其他。


(4)反转录转座:转座因子,正弦线,它已 经从基因组的惰性区域成为插入外显子的地方。

Polymorphisms: ‘Mutations’ that are propagated and maintained in the population at
relatively high frequencies are called polymorphisms. Polymorphism is defined as the
existence of two or more alleles, where the rare allele appears with a frequency greater than
1% in the population.
多态性: “突变”在群体繁衍中 维持在相对高的频率被称为多态性。多态性被定义为在群体
中存在2个或多个基因频率大于1%的等位基 因的。

Euchromatin: Slightly and evenly stained, non- or low-repetitive DNA regions
Heterochromatin: Darkly and unevenly stained, highly repetitive DNA regions
常染色质:略,染色均匀,无或低重复DNA区域
异染色质:黑暗和不均匀染色,高度重复的DNA区域

Fluorescence In Situ Hybridization(FISH):Using DNA probe labeled with a certain marker.
Probes hybridized with the fragment in chromosome are detected by signals from the
labeled markers. Rapid mapping of genes and sequences in chromosome. Detecting small
fragment in interphase. Detecting cryptic rearrangements or small deletions – Banding
could not be detected < 4Mb
荧光原位杂交:用一个标记标记的核酸探针,与染色体片段杂交的探针 ,通过标记标记的
信号检测。快速定位碱基序列,检测相间小片段。探测不到重排或<< 4MB小的缺失带。

Fragile Sites:Non-staining gaps that occasionally observer at characteristic sites on several
chromosomes. Depend on growth conditions. Heritable variants.
脆性位点:在少数染色体中观察到的非染色特征区域。由生长条件决定。可遗传变异。

Comparative Genomic Hybridization (CGH):Lable test DNA with green,Lable normal
DNA with red。Compare the intensity of two fluorochromes along the chromosome set.
Detection of duplication or deletion of chromosomal segment. 比较基因杂交技术:绿色标记测试DNA,红色标记正常。比较两沿染色体荧光强度。用于
染色体片 段重复或缺失的检测。
X chromosome inactivation :Gene dosage compensation is achieved in all persons with two
or more X chromosomes in their genetic constitution by partial inactivation of all X
chromosomes except one.
X染色体失活:基因的剂 量补偿是实现有2个或更多的染色体的人在遗传结构中的所有染
色体失活一个以外的染色体。

Deletion: Loss of a chromosome segment . Resulted from breakage or unequal cross-over or
segregation of balanced abnormality.
缺失:染色体片段缺失。由于破损或不等或平衡异常分离。
Duplication :Gain of a extract chromosome segment in the same chromosome. Resulted from
unequal cross-over or segregation of balanced abnormality
重复:同一染色体中提取染色体片段的增益。由于不等或平衡异常分离。


Insertion: Gain of a extract chromosome segment from the different chromosome. Resulted
from segregation of balanced abnormality .
插入:从不同的染色体中提取染色体片段。平衡异常的分离.
Isochromosome: 等臂染色体。着丝粒横裂,再复制,形成两臂在形态上和遗传结构上完全
相同。
Ring chromosome: 环状染色体。长短臂同时断裂,含有着丝粒的片段两端发生重接。
Inversions: A single chromosome undergoes two breaks and is reconstituted with the
segment between the breaks inverted.
倒位:一个单一的染色体经历了两次断裂和断点间的倒位重接。
Translocation: 易位
Reciprocal, Resulted from breakage of nonhomologous chromosomes, with reciprocal
exchange of the broke-off segments. 相互易位,两条非同源染色体同时断裂重接,形成两条
延伸染色体。
Robertsonian Translocation: Two acrocentric chromosomes fuse near the centromere
region with loss of the short arms, which carry multiple copies of genes for rRNA.罗伯逊易
位:又称着丝粒融合,两条近端着丝粒 染色体在着丝粒附近发生断裂后二者的长臂构成衍
生染色体,短臂构成一个小染色体(第二次分裂时丢失 )。45条染色体但表型正常。

True Hermaphroditism :Both ovarian and testicular tissue are present in one (ovotestis) or
both gonads. Differentiation of the internal and external genitalia is highly variable, and
most often they are ambiguous.
真两性畸形:同时存在卵巢和睾丸两个性腺组织在一个或者两个生殖腺(ovotestis)。 内部
和外部生殖器的分化高度可变且界限模糊。
Female Pseudohermaphroditism:女性假两性畸形。
Male Pseudohermaphroditism:男性假两性畸形。


Genotype: The combination of alleles that an individual possesses.
基因型:个体具有的等位基因的组合。
Phenotype: The physical characteristics of a cell or organism as defined by its genetic
constitution.
表型:细胞或有机体的物理特性,其遗传结构的定义。
Allele: One of the variant forms of a gene at a particular locus, or location, on a cs. Different
alleles produce variation in inherited characteristics such as hair color or blood type.
等位基因:在一个特定的位点,或位置,在一个特定的基因的变体形式之一。 不同的等位
基因在继承的特性,如头发颜色或血液类型的变化产生变化。
Pedigree: A simplified diagram of a family's genealogy that shows family members'
relationships to each other and how a particular trait or disease has been inherited.
家系:一个家庭的家谱的简化图,显示了家庭成员之间的相互关系, 以及一个特殊的性状
或疾病是如何遗传的。
Proband (index case): The family member who first bring a family to the attention of an
investigator is proband.
先证者(指数):家庭成员谁先把家庭调查人员的关注者。
Pedigree symbols:谱系符号


Pleiotropy: multiple effects of a single gene (one gene, more than one effect )
多效性:一个基因的多重影响(一个基因,一个以上的效果)。
Expressivity: Variation in the severity of the phenotypic features of a particular gene.
表现度:在一个特定的基因表型的严重程度的变化。
Penetrance: The proportion of heterozygotes for a dominant gene who express a trait, even if
mildly.
显性率:杂合子的比例为显性基因的表达他们的特性,即使轻度。
Hemizygote: no corresponding loci on the Y chromosome, only one allele of each X
chromosome locus.
半合子:Y染色体上没有相应的基因,只在每个X染色体有一个等位基因位点。
Genetic Heterogeneity:The phenomenon that a disorder can be caused by different allelic or
non-allelic mutations.
遗传异质性:一种由不同的等位基因或非等位基因突变引起的现象。
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.
等位基因的异质性:在一个人口中,有可能是一个单一的位点的不同的突变等位基因的数目。在一个单独的,相同或相似的表型可能是由不同的突变等位基因,而不是由相同
的等位基因 的位点。
Locus heterogeneity: The production of identical phenotypes by mutations at two or
more different loci.
位点异质性:在2个或多个不同位点突变的相同表型的生产。
Phenotypic (Clinical) heterogeneity: The term describing the occurrence of clinically
different phenotypes from mutations in the same gene.
表型(临床)异质性:描述在同一基因突变的临床不同表型的发生。
Epigenetic: The term that refers to any factor that can affect gene function without change
in the e DNA methylation 、Genomic imprinting (parent-of-origin
silencing) 、Histone Modification、s Regulatory non-coding RNAs
表观遗传:指在基因型中不改变任何影响基因功能的因素。包括甲基 化、基因组印记(母
源沉默)、组蛋白修饰、非编码RNA调控。
Genomic imprinting:The phenomenon of a gene or region of a chromosome showing
different expression depending on the parent of origin
基因组印记:一种染色体上 的基因或区域的现象,这一现象取决于其来源的亲本。
(prader-willi and angleman syndrome)
Anticipation:The tendency for some AD diseases to manifest at an earlier age andor to
increase in severity with each succeeding generation.
遗传早现:一些显性疾病在早期的年龄发病和或增加的严重程度的倾向。
X inactivation (lyonization):Inactivation of genes on one X chromosome in somatic cells of
female mammals, occurring early in embryonic life, at about the time of implantation. A
random and permanent event.
X染色体失活(莱昂假说):在一个X染色体的基因在雌性哺乳动 物体细胞的失活,在胚胎
早期发生,即植入时,为随机性和永久性事件。

Genetic Susceptibility: An inherited predisposition 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. polygenic inheritance.
遗传易感性:遗传疾病或障碍并不是由于单一基因引 起的,通常是一个复杂的多个不同基
因的影响相互作用的结果,即多基因遗传。
Liability:A concept used in disorders which are multifactorially determined to take into
account all possible causative factors.
易患性:由多因素决定的疾病,考虑其所有可能的致病因素。
Trait: Any detectable phenotypic property or character.
性状:任何可检测的表型性状或性状。
Qualitative trait: A genetic disease trait that either present or absent. The pattern of
inheritance for a qualitative trait is typically monogenetic, which means that the trait is only
influenced by a single gene.
质量性状:一种遗传病的有无,即患病或正常在。一个质量性状遗传方式 通常是单色的,
这意味着该性状是由单个基因的影响。
Quantitative trait: are measurable characteristics such as height, blood pressure, serum
cholesterol, and body mass index. A quantitative trait shows continued variation under the
influence of many different genes.
数量性状:身高、血压、血清胆固醇、体质指数等是可 测量的生理生化指标。在许多不同
基因的影响下,一个数量性状表现出持续的变化。
Familial aggregation: Affected individuals tend to cluster in families.
家族聚集:受影响的个体倾向于聚集在家庭中。
Heritability (h2) : The proportion of the total variation of a character attributable to genetic
as opposed to environment factors.
遗传率:一种归因于遗传的特性与环境因子的比例。

3 approaches for discovering the particular genes implicated in disease
Linkage analysis: family-based. the disease with a particular genomic region or even with a
specific variant or variants
Association analysis: population-based. increased or decreased frequency of a particular
allele or set of alleles in a sample of affected individuals taken from the population
Genome sequencing: WES (whole exome sequencing)、WGS (whole genome sequencing)
发现疾病的特定基因的3种方法
连锁分析:以家庭为基础。具有特定基因组区域的疾病,甚至具有特定的变异或变异
关联分析 :以人群为基础。增加或减少特定等位基因的频率,或在受影响的个体的样本中
的等位基因的频率
基因组测序:WES(全外显子测序)、WGS(全基因组测序)
Haplotype :A group of alleles in coupling at closely linked loci, usually inherited as a unit.
单倍型:一组等位基因在紧密相连的位点,通常继承为一个单位。

Mutation:a structural change in genomic DNA sequence due to errors in DNA
replication or repair.
突变:由于染色体复制或修复过程中的错误导致基因组序列的结构变化。
polymorphisms:‘Mutations’ that are propagated and maintained in the population at
relatively high frequencies are called polymorphisms.


Polymorphism is defined as the existence of two or more alleles, where the rare allele
appears with a frequency greater than 1% in the population.
遗传多态性:“突变”在相对高的频率被称为多态性传播和保持在人口中被称为多态性。
多态 性被定义为2个或多个等位基因的存在,在那里的罕见的等位基因出现的频率大于1%
的人口。
Mendelian population:An interbreeding population of sexually reproducing individuals
sharing a common gene pool.
孟德尔群体:混种种群有性繁殖的个体共享一个共同的基因库。
Genotype: the genetic constitution of a single individual.
基因型:单个个体的遗传结构。
Gene pool : the genetic constitution of a population of a given organism.
OR: All the genes of all the individuals in population make up the gene pool.
基因库:一种特定生物体的遗传结构。
或:所有的基因的所有个人的人口组成的基因池。

Heterozygote Advantage:Mutant allele has a high frequency despite reduced fitness in
affected individuals. Heterozygote has increased fitness over both homozygous genotypes < br>杂合子优势:突变等位基因具有很高的频率虽然降低影响个人适应性。杂合子比纯合子有
更高的适 应性。
Founder Effect:If an original member of a sub-population has a rare allele, it may become
common in the sub-population (high carrier frequency), resulting in high frequency of
‘rare’ disease.
奠基者效应:如果一个亚群的原始成员有一个罕见的等位基 因,它可能会成为共同的子种
群(高载波频率),导致高频率的“罕见”的疾病。
Genetic Drift:Fluctuation in allele frequency due to chance in a small population.
遗传漂变:一个小种群的机会,等位基因频率的波动。

Homeostasis: The tendency towards a relatively constant state.
稳态:对一个相对恒定的状态的趋势。
Molecular Disease: A disease in which there is an abnormality in or a deficiency of a
particular molecule.
分子病:一种特殊的分子的异常或缺乏的一种疾病。
Gene cluster: A group of adjacent genes that are identical or related.
基因簇:一组相邻的基因是相同的或相关的。
Pseudogene: DNA sequence homologous with a known gene but is non-functional.
假基因:DNA同源序列与已知的基因而非功能。

Inborn Error of Metabolism:Any of a group of congenital disorders caused by an inherited
defect in a single specific enzyme that results in a disruption or abnormality in a specific
metabolic pathway.
先天性代谢缺陷:一组由遗传缺 陷引起的一组先天性疾病,在一个特定的酶,导致一个特
定的代谢途径中断或异常。


Homoplasmy: The presence of only one type of mtDNA in the mitochondria of a single
individual.
纯质性:一个个体的线粒体中只表达一种线粒体DNA(全部野生或全部突变)
Heteroplasmy: The presence of more than one type of mtDNA in the mitochondria of a
single individual.
杂质性:一个个体的线粒体中只表达一种以上线粒体DNA(有野生和突变)
Inheritance and expression variable because of heteroplasmy (differing proportions of
normal and mutant DNA in oocytes and tissues) 遗传和表达不同是由于杂质性有不同的野
生和突变mtDNA比例。

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