遗传学名词解释

Terms of Medical Genetics

1.Genome基因组: The complete DNA sequence, 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sequences, corresponding to the sequence of mRNA.

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

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

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

7.Phenotype表现型: The physical characteristics of a cell or organism 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染色体and cytoskeletal proteins.

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

10.OMIM: Online access to McKusick’s 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.

11.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.

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 transcribed 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-repetitive DNA regions. The major component of chromatin.

15.Heterochromatin异染色质: Darkly and unevenly stained, highly repetitive高度重复DNA regions.

16.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 photomicrograph of an individual’s chrom osomes 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fuse near the centromere region with loss of the short arms, which carry 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 can be caused by different allelic or non-allelic mutations.

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

21.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.

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 frequently 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 manifest at an earlier age and/or to increase in severity with each succeeding 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 multiple different genes,