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。
（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。
遗传学名词解释
