遗传学资料：遗传学genetic——wxt.docxVIP

遗传学genetic Gene(基因)：a DNA fragment coding for a functional peptide/protein or a RNA. Genotype（基因型）: The combination of alleles that an individual possesses. Phenotype（表现型）: The physical characteristics of a cell or organism as defined by its genetic constitution. Allele(等位基因): One of the variant 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. Pedigree（家谱）: A simplified diagram of a familys genealogy that shows family members relationships to each other and how a particular trait or disease has been inherited. Proband（先证者）: The family member who first bring a family to the attention of an investigator is proband. Single-gene disordor：is one that is determined primarily by the alleles at a single locus. 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. Genomics基因组学: The field of genetics concerned with structural and functional studies of the genome. Exon外显子: Encoding编码 sequences, corresponding to the sequence of mRNA. Intron内含子: Non-encoding sequences, corresponding RNA sequence will be removed from mRNA. Housekeeping gene管家基因: Genes which express proteins common to all cells, e.g. Ribosomal, chromosomal染色体 and cytoskeletal proteins. Luxury gene奢侈基因: are those coding for specialized functions synthesized (usually) in large amounts in particular cell types. 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. 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, i.e.