Terms of Medical Genetics
1.Genome基因组: The complete DNA quence, containing the entire genetic information, of
a gamete配子, an individual, a population种群, or a species.
2.Genomics基因组学: The field of genetics concerned with structural and functional
studies of the genome.
3.Exon外显子: Encoding编码 quences, corresponding to the quence of mRNA.
4.Intron内含子: Non-encoding quences, corresponding对应的 RNA quence will be removed
from mRNA.
5.Allele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 possd two alleles, one inherited from mum and one from dad.
6.Genotype基因型:1.The combination of alleles that an individual posss.2.The genetic constitution
勾股定理公式大全
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.Phenotype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
dia（祁鸣）
8.Houkeeping gene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.Luxury gene奢侈基因（组织特异性基因）: are tho 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.OMIM: 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。）
11.Split genes分裂基因: 1.Structural genes in eukaryote[ju:'kæriəut]真核生物 are split genes with two kinds of quences, although it is continuous in prokaryote原核生物.
2.Specific quences of nucleotides核苷酸类 along a molecule分子 of DNA (or,in the ca of some virus,RNA) which reprent 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.Sen strand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 “n” 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.Antinstrand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 antin.
14.Euchromatin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 looly packaged and more accessible to RNA polymeras 聚合酶类than heterochromatin. The regions also stain differentially in chromosome bandingpreparations.
15.Heterochromatin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 condend 聚集浓缩的and is transcriptionally inactive during interpha 分裂期
16.Karyotype染色体组型: The number, size and shape of the chromosomes同源染色体 of an individual.Also ud for the photomicrograph显微照片 of an individual’s chromosomes arranged in a standard manner.
17.Robertsonian Translocation罗伯逊易位:Two acrocentric chromosomes近端点着丝粒染色体fu 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。
18.Proband先证者: The family member who first bring a family to the attention of an investigator is proband.
19.Genetic Heterogeneity遗传异质性: 1.The phenomenon that a disorder can be caud by different allelic or non-allelic mutations.2. The prence 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 ttings genetic heterogeneity refers to the prence of a variety of genetic defects 遗传缺陷 which cau the same dia, often due to mutations at different loci 基因座 on the same gene, a finding common to many human dias including alzheimer dia 阿尔茨海默病，老年性痴呆; cystic fibrosis 囊性纤维化; lipoprotein lipa脂蛋白脂酶 deficiency, familial 家族性; and Polycystic Kidney Dias 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.Expressivity表现度: Variation 变异 in the verity 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.Penetrance外显率: 1.The proportion(比例) of heterozygotes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 itlf in the phenotype of the carriers.榜书
22.Sex-limitation限性: When a trait is only manifest（显示） in individuals of one x.
23.Sex-influence偏性: When a genetic trait 遗传性状is expresd more frequently in one x than another.
源或母源的等位基因，使之在子代中产生不同表型
25.Anticipation遗传早现: The tendency for some AD dias to manifest显示 at an earlier
手撕包菜age and/or to increa in verity with each succeeding generation.
26.Genetic Susceptibility遗传易感性: An inherited predisposition倾向 to a dia or disorder which is not due to a single-gene cau 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.Liability易患性: A concept概念 ud in disorders which are multifactorially多因子的determined to take into account all possible causative factors诱发因素.
28.Hardy-Weinberg equilibrium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veral assumptions假设:large population, random mating随机交配, no mutations, no migration between populations, no lection - all genotypes reproduce with equal success.
平板电脑前十名
29.Gene pool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 possd by the reproductive members of a POPULATION of xually reproducing organisms生物体.大杨山国家森林公园
公司员工管理30.Genetic Drift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.Heterozygote Advantage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.Homoplasmy同质性: The prence of only one type of mtDNA 线粒体RNA in the mitochondria 线粒体of a single individual.
今天妈妈不在家33.Heteroplasmy异质性: The prence of more than one type of mtDNA in the mitochondria of
a single individual.
34.Molecular Dia分子病: A dia 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.谢谢的英文
35.Gene cluster基因簇: A group of adjacent邻近的 genes which are identical or related.
36.Pudogene假基因:1. DNA quence homologous同源的 with a known gene but is non-
functional.2．Genes bearing clo remblance 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 gment节段
near the downstream输出管 end (as a result of rever 颠倒copying from procesd nuclear
RNA into double-stranded多股的 DNA),they are called procesd genes.）
37.Inborn Error of Metabolism先天代谢错误缺陷:1. Any of a group of congenital disorders
先天性障碍caud 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. Dias
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 the dias, tho
characterized by structural deformities 结构变形are termed abnormality.
38.Haplotype单倍体: 1.A group of alleles in coupling结合, (动)交尾 at cloly 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 ts of genes that are cloly linked and
tend to be inherited together such as tho of the Major Histocompatibility Complex主要组
织相容性复合物.
39.Pharmacogenomics药物基因组学：1.is the study of the variability变异性 of the
expression of individual genes relevant to dia susceptibility疾病易感性 as well as
drug respon at cellular, tissue, individual or population level.2. A branch of genetics which deals with the genetic variability in individual respons to drugs and drug
metabolism药物代谢作用.
40.SNP单核苷酸多态性: A change in which a single ba in the DNA differs from the usual
ba at that position.
41. LOH(loss of heterozygosity)杂合性缺失: 1.Loss of a normal allele from a region基因座
控制区 of one chromosome of a pair,allowing a defective 缺陷的allele on the homologous chromosome to be clinically manifest表现.A feature of many cas of retinoblastoma视网膜
母细胞瘤,breast cancer,and other tumors瘤 due to mutation in a TSG.2. The loss of one
