重点名解资料Terms of Medical Genetics.doc

PAGE PAGE 2 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