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1、遗传学 genetic 1.Gene(基因)：a DNA fragment coding for a functional peptide/protein or a RNA.2.Genotype（基因型）:The combination of alleles that an individual possesses.3.Phenotype（表现型）:The physical characteristics of a cell or organism as defined by its genetic constitution.4.Allele(等位基因):One of the variant
2、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.5.Pedigree（家谱）:A simplified diagram of a familys genealogy that shows family members relationships to each other and how a particular trait or d
3、isease has been inherited.6.Proband（先证者）:The family member who first bring a family to the attention of an investigator is proband.7.Single-gene disordor：is one that is determined primarily by the alleles at a single locus.8.Genome 基因组:The complete DNA sequence,containing the entire genetic informat
4、ion,of a gamete配子,an individual,a population 种群,or a species.9.Genomics 基因组学:The field of genetics concerned with structural and functional studies of the genome.10.Exon 外显子:Encoding 编码 sequences,corresponding to the sequence of mRNA.11.Intron 内含子:Non-encoding sequences,corresponding RNA sequence wi
5、ll be removed from mRNA.12.Housekeeping gene 管家基因:Genes which express proteins common to all cells,e.g.Ribosomal,chromosomal 染色体 and cytoskeletal proteins.13.Luxury gene 奢侈基因:are those coding for specialized functions synthesized(usually)in large amounts in particular cell types.14.OMIM:Online acces
6、s to McKusicks catalogue,Online Mendelian Inheritance 孟德尔遗传 in Man,an invaluable resource for clinical genetic information with a wealth of links to many other resources.15.Genetic Susceptibility（遗传易感性）：An inherited predisposition to a disease or disorder which is not due to a single-gene cause and
7、is usually the result of a complex interaction of the effects of multiple different genes,i.e.polygenic inheritan ce.16.Trait(性状):Any detectable phenotypic property or character.17.Qualitative trait（质量性状）:A genetic disease trait that either present or absent.The pattern of inheritance for a qualitat
8、ive trait is typically monogenetic,which means that the trait is only influenced by a single gene.18.Quantitative trait（数量性状）: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
9、different genes.19.Liability（易患性）：A concept used in disorders which are multifactorially determined to take into account all possible causative factors.20.Familial aggregation(家庭聚集性)：Affected individuals tend to cluster in families.21.Correlation（相对性）：Correlation is a statistical measure of the degr
10、ee of association of variable phenomena(a measure of the degree of resemblance or relationship between 2 parameters).22.Split genes 分裂基因:Structural genes in eukaryote真核生物 are split genes with two kinds of sequences,although it is continuous in prokaryote原核生物.23.Sense strand 有意义链:Strand of genomic DN
11、A to which the mRNA is identical.Untranscribed strand of the gene(5to 3)is called as“coding”or“sense”for the corresponding codes in RNA.24.Antisense strand 反义链:The template strand of DNA.The transcribed strand of the gene is in a 3to 5 direction is referred as non-coding or antisense.25.Euchromatin
12、常染色质:Slightly and evenly stained,non-or low-repetitive DNA regions.The major component of chromatin.26.Heterochromatin异染色质:Darkly and unevenly stained,highly repetitive高度重复 DNA regions.27.Karyotype 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 photomicrog
13、raph of an individuals chromosomes arranged in a standard manner.28.Robertsonian Translocation罗伯逊易位:Two acrocentric chromosomes近端点着丝粒染色体 fuse near the centromere region with loss of the short arms,which carry multiple copies of genes for rRNA.29.Genetic Heterogeneity遗传异质性:The phenomenon that a disor
14、der can be caused by different allelic or non-allelic mutations.30.Expressivity 表现度:Variation in the severity of the phenotypic features of a particular gene.31.Penetrance 外显率:The proportion of heterozygotes杂合子 for a dominant gene显性基因 who express a trait,even if mildly.32.Sex-limitation 限性:When a tr
15、ait is only manifest in individuals of one sex.33.Sex-influence 偏性:When a genetic trait is expressed more frequently in one sex than another.34.genetic imprinting 遗传印记:The phenomenon of a gene or region of a chromosome showing different expression depending on the parent of origin.35.Anticipation 遗传
16、早现:The tendency for some AD diseases to manifest at an earlier age and/or to increase in severity with each succeeding generation.36.Genetic Susceptibility 遗传易感性: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 intera
17、ction of the effects of multiple different genes,i.e.polygenic inheritance.37.Liability易患性:A concept used in disorders which are multifactorially determined to take into account all possible causative factors 38.Hardy-Weinberg equilibrium 遗传平衡定律：it implies that gene and genotype frequencies are cons
18、tant from generation to generation.H-W law rests on several assumptions:large population,random mating随机交配,no mutations,no migration between populations,no selection-all genotypes reproduce with equal success.39.Gene pool 基因库:the genetic constitution of a population of a given organism.All the genes
19、 of all the individuals in population make up the gene pool.40.Genetic Drift 遗传漂变:Fluctuation in allele frequency due to chance in a small population.41.Heterozygote Advantage杂种优势:Mutant allele突变体等位基因 has a high frequency despite reduced fitness in affected individuals.42.Homoplasmy 同质性:The presence
20、 of only one type of mtDNA in the mitochondria of a single individual.43.Heteroplasmy 异质性:The presence of more than one type of mtDNA in the mitochondria of a single individual.44.Molecular Disease 分子病:A disease in which there is an abnormality in or a deficiency of a particular molecule,such as hem
21、oglobin in sickle cell anemia.45.Gene cluster 基因簇:A group of adjacent genes which are identical or related.46.Pseudogene 假基因:DNA sequence homologous with a known gene but is non-functional.47.Inborn Error of Metabolism先天代谢错误:Any of a group of congenital disorders caused by an inherited defect in a s
22、ingle specific enzyme that results in a disruption or abnormality in a specific metabolic pathway.48.Haplotype 单倍体:A group of alleles in coupling at closely linked loci,usually inherited as a unit.49.Pharmacogenomics药物基因组学：is the study of the variability of the expression of individual genes relevan
23、t to disease susceptibility as well as drug response at cellular,tissue,individual or population level.50.SNP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.51.LOH(loss of heterozygosity)杂合性缺失:Loss of a normal allele from a region of one chromosome of
24、a pair,allowing a defective allele on the homologous chromosome to be clinically manifest.A feature of many cases of retinoblastoma,breast cancer,and other tumors due to mutation in a TSG.52.Gene therapy 基因疗法:The medical procedure involves either replacing,manipulating,or supplementing nonfunctional genes with healthy genes.