遗传学名词解释

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