遗传学突变及疾病汇总a.doc

Transcription factors (TFs)： Response elements: regulated in response to certain TFs Each TF has a specific binding sequence TFs have primary responsibility for recognizing promoter, binding to the RNA pol and positioning it correctly at the startpoint cis-acting elements in promoter Formation of pre-initiation complex Mutations突变 A mutation is a structural change in genomic DNA sequence due to errors in DNA replication or repair. 突变是DNA片段上的结构改变，由于DNA的复制或者修复错误。 Mutations may or may not result in an expressed phenotype.可能不会改变表型 Mutations that have no phenotype are called neutral mutations.没有表型的突变称为中立突变 Mutations can alter RNA expression, processing and/or stability.改变RNA表达，加工，稳定 Mutations can also affect protein expression, processing, stability.影响蛋白质表达，加工，稳定 Mutations can be inherited (genetic/germ line mutations)突变可以遗传。体细胞突变，生殖细胞突变 not inherited (somatic mutations) Structural classification of mutations 1. Point mutations: change in one base pair of DNA.点突变。DNA (1) silent mutations同义突变（neutral mutations）: changes in DNA which do not affect protein expression or function. (2) missense mutations: changes in DNA which lead to a change in an amino acid. (3) nonsense mutations: 无义突变 changes in DNA which generate a termination codon and thus stop translation. (4) Regulatory mutations: one which involves the promoter or another regulatory sequence such as an enhancer, silencer, or locus control region. (5) RNA processing mutations: These affect the processing of the primary RNA transcript to form mRNA, either by altering normal RNA splicing or by preventing either normal 5’-capping or 3’-polyadenylation. 2. Deletions and insertions: small deletions and insertions: If the number of nucleotides deleted or inserted in an exon is not a multiple of three, then the sequence of codons, known as the reading frame, is disrupted. This is referred to as a frame-shift → a truncated protein. large deletions and insertions: These range in size from 20 bp to