遗传学名解

遗传学名解

1.Genome基因组: The complete DNA sequence, containing the entire gen etic information, of a gamete, an individual, a population, or a spec ies.

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 sequences, corresponding to the sequence of m RNA

4.Intron内含子: Non-encoding sequences, corresponding RNA sequence w ill be removed from mRNA.

5.Allele等位基因: One of the different forms of a gene pair. At each autosomal locus an individual possessed two alleles, one inherited f rom mum and one from dad.

6.Genotype基因型: The combination of alleles that an individual poss esses.

7.Phenotype表现型: The physical characteristics of a cell or organis m as defined by its genetic constitution.

8.Housekeeping gene管家基因: Genes which express proteins common to all cells, e.g. Ribosomal, chromosomal and cytoskeletal proteins.

9.Luxury gene奢侈基因: are those coding for specialized functions sy nthesized (usually) in large amounts in particular cell types.

10.OMIM: Online access to McKusick’s catalogue, Online Mendelian Inh eritance in Man, an invaluable resource for clinical genetic informat ion with a wealth of links to many other resources.

11.Split genes分裂基因: Structural genes in eukaryote are split gene s with two kinds of sequences, although it is continuous in prokaryot e.

12.Sense strand有意义链: Strand of genomic DNA to which the mRNA is identical. Untranscribed strand of the gene (5’to 3’) is called as “coding” or “sense” for the corresponding codes in RNA.

13.Antisense strand反义链: The template strand of DNA. The transcrib ed strand of the gene is in a 3’to 5’ direction is referred as non-coding or antisense.

14.Euchromatin常染色质: Slightly and evenly stained, non- or low-rep etitive DNA regions. The major component of chromatin.

15.Heterochromatin异染色质: Darkly and unevenly stained, highly repe titive DNA regions.

16.Karyotype染色体组型: The number, size and shape of the chromosome s of an individual. Also used for the photomicrograph of an individua l’s chromosomes arranged in a standard manner.

17.Robertsonian Translocation罗伯逊易位: Two acrocentric chromosomes fuse near the centromere region with loss of the short arms, which c arry multiple copies of genes for rRNA.

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: The phenomenon that a disorder c an be caused by different allelic or non-allelic mutations.

20.Expressivity表现度: Variation in the severity of the phenotypic f eatures of a particular gene.

21.Penetrance外显率: The proportion of heterozygotes for a dominant gene who express a trait, even if mildly.

22.Sex-limitation限性: When a trait is only manifest in individuals of one sex.

23.Sex-influence偏性: When a genetic trait is expressed more frequen tly in one sex than another.

24.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.

25.Anticipation遗传早现: The tendency for some AD diseases to manife st at an earlier age and/or to increase in severity with each succeed ing generation.

26.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 interaction of the effects of multipl e different genes, i.e. polygenic inheritance.

27.Liability易患性: A concept used in disorders which are multifacto rially determined to take into account all possible causative factor s.

28.Hardy-Weinberg equilibrium遗传平衡定律 it implies that gene and g enotype frequencies are constant from generation to generation. H-W l aw rests on several assumptions: large population, random mating, no mutations, no migration between populations, no selection - all genot ypes reproduce with equal success

29.Gene pool基因库: the genetic constitution of a population of a gi ven organism. All the genes of all the individuals in population make up the gene pool.

30.Genetic Drift遗传漂变: Fluctuation in allele frequency due to cha nce in a small population.

31.Heterozygote Advantage杂种优势: Mutant allele has a high frequenc y despite reduced fitness in affected individuals.

32.Homoplasmy同质性: The presence of only one type of mtDNA in the m itochondria of a single individual.

33.Heteroplasmy异质性: The presence of more than one type of mtDNA i n the mitochondria of a single individual.

34.Molecular Disease分子病: A disease in which there is an abnormali ty in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia.

35.Gene cluster基因簇: A group of adjacent genes which are identical or related.

36.Pseudogene假基因: DNA sequence homologous with a known gene but i s non-functional.

37.Inborn Error of Metabolism遗传性代谢病: Any of a group of congeni tal disorders caused by an inherited defect in a single specific enzy me that results in a disruption or abnormality in a specific metaboli c pathway.

38.Haplotype单倍体: A group of alleles in coupling at closely linked loci, usually inherited as a unit.

39.Pharmacogenomics药物基因组学 is the study of the variability of t he expression of individual genes relevant to disease susceptibility as well as drug response at cellular, tissue, individual or populatio n level.

40.SNP单核苷酸多态性: A change in which a single base in the DNA dif fers from the usual base at that position.

41.LOH(loss of heterozygosity)杂合性缺失: Loss of a normal allele fro m a region of one chromosome of a pair, allowing a defective allele o n the homologous chromosome to be clinically manifest. A feature of m any cases of retinoblastoma, breast cancer, and other tumors due to m utation in a TSG.

42.Gene therapy基因疗法: The medical procedure involves either repla cing, manipulating, or supplementing nonfunctional genes with healthy genes.