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因組學(xué) 技術(shù): DNA體外擴(kuò)增技術(shù) PCR 高通量自動(dòng)化 DNA測(cè)序技術(shù) 基因組數(shù)據(jù)庫(kù)及分析軟件 14 15 The human genome ? ~ x 109 bp (thirty time larger than or ) ? coding sequences form only 5% of the human genome ? Repeat sequences over 50% ? Only ~ genes ? Human genome is distributed over 22 chromosome pairs plus X and Y chromosomes ? Exons of proteincoding genes are relatively small pared to other known eukaryotic genomes ? Introns are relatively long ? Proteincoding genes span long stretches of DNA (dystrophin, coding a amino acid protein, is long) ? Average gene length: ~ 8,000 bp ? Average of 56 exons/gene ? Average exon length: ~200 bp ? Average intron length: ~2,000 bp ? ~8% genes have a single exon ? Some exons can be as small as 1 or 3 bp. 16 The human genome ? All people are different, but the DNA of different people only varies for % or less. ? So, only up to 2 letters in 1000 are expected to be different. ? Evidence in current genomics studies (Single Nucleotide Polymorphisms or SNPs) imply that on average only 1 letter out of 1400 is different between individuals. ? means that 2 to 3 million letters would differ between individua