分子诊断学重点.docxVIP

molecular diagnostics：It represents the application of the principles of basic molecular biology to the investigation of human disease processes.中心法则is the theory that DNA encodes RNA (the process of transcription) which encodes proteins (translation), but that information does not flow from proteins to DNA.DNA复制:the process by which the double helix is unwound and each strand acts as a template. Bases are matched to synthesize the new partner strands.转录:the process by which an RNA copy of a gene is made.逆转录:synthesis of a DNA using an RNA template.翻译:the process by which ribosomes use the information in mRNAs to synthesis proteins.基因: the basic unit of heredity. Usually, this is equated with the production of one RNA or one protein. A gene contains coding regions, introns, untranslated regions and control regions内含子: a region that interrupts the transcribed part of a gene. An intron is transcribed, but is removed by splicing during maturation of the transcript. The word refers to the intervening sequence in both the DNA and its RNA product.外显子: a region of a gene that is ultimately represented in that gene’s mature transcript.The word refers to both the DNA and its RNA product.RNA剪切：Remove the noncoding sequences from primary RNA transcript.选择性剪切：produce of many different proteins from one gene.从一个mRNA前体中通过不同的剪切方式产生不同mRNA剪接异构体的过程，而最终的蛋白质也会不同。非编码序列：Noncoding sequences contain information that? ? does not lead to the synthesis of an active RNA molecule or protein.编码序列：Coding sequences give rise to all of the transcribed RNAs of the cell, including mRNA.RNA编辑：RNA editing: the term RNA editing is used to describe the post-transcriptional alteration of gene sequences by diverse mechanisms including the deletion, insertion and modification of nucleotides.向导RNA(gRNAs): small RNAs that bind to regions of an mRNA precursor and serve as template for editing a region upstream.CpG岛： a region of DNA containing many unmethylated CpG sequences. Usually associated with active gene