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傳給子代(突變率高) 片段長度多態(tài)性 (length polymorphism) 特點(diǎn) : 1. 串聯(lián)重復(fù)序列 (tandem repeat)。 2. 同基因座的不同等位基因,核心序列 (core sequence)數(shù)量不同 ,因而表現(xiàn)為長度差異 . 衛(wèi)星 DNA(串聯(lián)重復(fù)序列 ),其 G/C含量高 ,少數(shù)為 A/T,沉降系數(shù)偏高或偏低 . 小衛(wèi)星 (minisatellite) DNA(核心序列 1070bp) 微衛(wèi)星 (microsatellite)DNA(核心序列 26bp) 通過 PCR可以檢測到。 What are STRs? ? Short Tandem Repeats (STR) are repetitive sequences: – Tetranucleotide: AAAG AAAG AAAG AAAG – Trinucleotide: CTT CTT CTT CTT CTT – Dinucleotide: AG AG AG AG AG AG ? Tetranucleotides are favored in human identity – Good balance of “ease of interpretation” and “variability found in nature” Short Tandem Repeats (STRs) the repeat region is variable between samples while the flanking regions where PCR primers bind are constant 7 repeats 8 repeats AATG Homozygote = both alleles are the same length Heterozygote = alleles differ and can be resolved from one another 170 bp 195 bp Different primer sets produce different PCR product sizes for the same STR allele TCAT repeat unit 復(fù)雜重復(fù)序列舉例 ? —[AGAT]m GAT [AGAT]n [AGAC]o [AGAT]p [AGAC]q— m=3 , n=3 , o=3, p=11, q=8 PowerPlex174。 16 Ladders D3S1358 D16S539 D21S11 D18S51 Penta D D13S317 CSF1PO D7S820 Penta E TH01 D5S818 VWA D8S1179 TPOX AMEL FGA (9) (9) (25) (22) (20) (10) (9) (9) (9) (10) (14) (13) (12) (8) (27) D 8 S 1 1 7 9 D 2 1 S 1 1 D 7 S 8 2 0C S F1 P OD 3 S 1 3 5 8T H 0 1D 1 3 S 3 1 7D 1 6 S 5 3 9D 2 S 1 3 3 8D 1 9 S 4 3 3 D 1 8 S 5 1T P O XV W AA M E L D 5 S 8 1 8FG AG S 5 0 0 LI Z s i z e s t a nd a rdM a r ke r N a m e G e n B a n k A c c e s s i on R e pe a t M ot i f A l l e l e R a n g e P C R P r od u c t S i z e s R e f e r e n c e D Y S 19 X 77 75 1 T A G A 8 16 178 21 0 b p Ro e w e r 1 9 9 2 D Y S 38 5 Z 93 95 0 GAAA 10 22 252 30 0 b p S c h n e i d e r 1 9 9 8 D Y S 38 8 G 09 69 5 A T T 12 17 128 14 3 b p K a y s e r 1 9 9 7 D Y S 38 9 I D Y S 38 9 I I G 09 60 0 G 09 60 0 ( T C T G ) ( T C T A ) ( T C T G ) ( T C T A ) I : 7 13 I I : 23 31 239 26 3 b p 353 38 5 b p K a y s e r 1 9 9 7 K a y s e r 1 9 9 7 D Y S 39 0 G 09 61 1 ( T C T A ) ( T C T G ) 18 27 191 22 7 b p K a y s e r 1 9 9 7 D Y S 39 1 G 09 61 3 T C T A 8 13 275 29 5 b p K a y s e r 1 9 9 7 D Y S 39 2 G 09 86 7 T A T 7 16 236 26 3 b p K a y s e r 1 9 9 7 DY S 39 3 G 09 60 1 AGAT 9 15 108 13 2 b p K a y s e r 1 9 9 7 Y C A I I I A C0 0 6 3 7 0 CA 19 25 192 20 4 b p K a y s e r 1 9 9 7 D Y S 43 4 A C0 0 2 9 9 2 A T C T 8 11 110 12 2 b p A y u b 2 0 0 0 D Y S 43 5 A C0 0 2 9 9 2 T G G A 9 13 210 22 8 b p A y u b 2 0 0 0 D Y S 43 6 A C0 0 5 8 2 0 G T T 10 15 128 14 3 b p A y u b 2 0 0 0 D Y S 43 7 A C0 0 2 9 9 2 T C T A 8 11 186 20 2 b p A y u b 2 0 0 0 D Y S 43 8 A C0 0 2 5 3 1 TTTTC 6 12 203 23 3 b p A y u b 2 0 0 0 D Y S 43 9 A C0 0 2 9 9 2 AGAT 9 14 238 25 8 b p A y u b 2 0 0 0 Y G A T A A4 G 42 67 0 AGAT 11 14 242 25 4 b p W h i t e 1 9 9 9 Y G A T A A G 42 67 5 A T A G 7 12 161 18 1 b p W h i t e 1 9 9 9 Y G A T A A G 42 67 1 T A G A 8 12 174 19 0 b p W h i t e 1 9 9 9 Y G A T A A8 G 42 67 2 T C T A 8 14 219 24 4 b p W h i t e 1 9 9 9 Y G A T A A 10 G 42 67 4 T A T C 11 14 160 17 2 b p W h i t e 1 9 9 9 Y G A T A C4 G 42 67 3 T A T C 11 16 251 27 1 b p W h i t e 1 9 9 9 Y G A T A H4 G 42 67 6 T A G A 10 13 362 37 0 b p W h i t e 1 9 9 9 YSTR Markers . Butler, Forensic DNA Typing, Table DNA序列多態(tài)性 1. 線粒體序列多態(tài)性 2. 基因多態(tài)性 : ABO血型 , HLA 3. MVR序列多態(tài)性 4. 單核苷酸多態(tài)性 (SNPs, single nucleotide polymorphism) (片段兩翼的序列相同 ) 5. 其他 以上均指以某一 位點(diǎn) (locus)來考慮的 mtDNA的多態(tài)性 ? 序列多態(tài)性 ? Dloop區(qū)域 ? 長度多態(tài)性 ? nt514nt523: CA重復(fù) ? Cstretch: polyC ? 9bp Delition mtDNA序列多態(tài)性 mtDNA 序列的表示方法(例: Anderson’s sequence) 序號(hào) nt 序號(hào) nt 序號(hào) nt 序號(hào) nt 序號(hào) nt --- --- --- ---