Livro Genomica - Luis Mir - 2005 Cap 00

 

B L K × A F N H 

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B L K × A F N H  Crbhkfzhgcr Lgftcrfhd  D\Á^ AFU

Ncksldmc Nflktájfnc  NHUDC^ HDELUWC ACULFUH-JFDMC NHUDC^ JULGLUFNC AHUWFK^ ALKNI NÆDFC DCPL^ ^FDZH LDFHKH HEGLMDHV LDÁEFC ULNM LAAHK\LD GFH^ KLWC JUHKNF^NC A. ^HD_HKC BDH\NF\^ CDFZH MÆDFC ZHKK\NNMF F^HÁH^ UHR OCUBL IHDFD OC^Æ LG\HUGC GL CDFZLFUH G\WUH AHUFH MLDLKH _HKLWWFKF AHUFH D\NFH NHUKLFUC ZFLFUH AHVHKH _HW_ KHKNL KHUGF KHWHD ZLDDC PH\DC HUU\GH PH\DC AH^NHULDDC EF^NM UHGCZHK ECUCOLZFN ^ÆUBFC NC^WH CDFZLFUH ^ÆUBFC PLKH

^îc Phudc • Ufc gl Ohklfrc • Ufelfrîc Prltc • Eldc Mcrfzcktl © Gfrlftcs rlslrvhgcs à LGFWCUH HWMLKL\ DWGH

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^îc Ph Phuudc ‗

Uuh Ols lsuuák ákcc Phsn sncchd, >0 Wlds.? (88) :=< Wld.? (8:) >>5>->5>-86 ‗ Ncko. 8.807

PUCOLWC BUÈJFNC? Lqufpl Htmlklu PUCG\ÂÎC LGFWCUFHD? Afdlkh Zfhkh NHPH? Ahbah Ncaukfnhâîc l Glsfbk

Ghgcs Fktlrkhnfckhfs gl Nhthdcbhâîc kh Puedfnhâîc (NFP) (Nåahrh Erhsfdlfrh gc Dfvrc, ^P, Erhsfd) Blk÷afnh/crbhkfzhgcr lgftcrfhd Duás Afr. ‗ ^îc Phudc? Lgftcrh Htmlklu, 500. Blkætfnh Blkætfnh „ Hspl Hsplntcs ntcs acrhfs acrhfs l ætfncs ætfncs 7. Blkæ Blkætfnh tfnh gl pcpu pcpudhâül dhâüls s -:857

NGG-  Ahrfh Ldcfsh gl ^è Acrlfrh

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 7 Gfkåafnh gcs Blkls l Algfnfkh Blk÷afnh, 28 Ndhrfnl ^haphfc Hdmc

 < Blk÷afnh Zlblthd,  6> Phudc Hrrugh

80< Efcfkjcraètfnh, :   Ocîc Nhrdcs ^ltuehd

2  Blk÷afnh Juknfckhd? Wrhksnrfptcah, 886  Ahrfdfs gc Zhddl Zhddl Ahrquls  Hdfkl Ahrfh gh ^fdvh

= Blk÷afnh Juknfckhd? Prctl÷afnh, 8>6 Phudc Ahsnhrlddc Efsnm

 6 Blk÷afnh Lstruturhd ‗ Gl Blkls h Kcvcs Jèrahncs, 8:> Bdhunfus Cdfvh

PHUWL FF ‗ BLK×AFNH LA ALGFNFKH Hprlslkthâîc?? Algfnfkh Blk÷afnh, 8=< Hprlslkthâîc ^ærbfc Ghkfdc Oukmc Plkh

80 Algfnfkh Blk÷afnh l Prètfnh Ndákfnh, 86< Nhrdcs Hdelrtc Acrlfrh-Jfdmc

88 Gclkâhs Blkætfnhs? Bïkfnhs, Nrcacss÷afnhs, Ncapdlxhs,  506  Khknl Elylr Khrgf Khrgf

85 Hncksldmhalktc Blkætfnc kh Lrh Blk÷afnh,  552  Phtránfh Bfubdfhkf Hsmtck-Prcddh Hsmtck-Pr cddh  Ucelrtc

8> Blk÷afnh l Lrrcs Fkhtcs gc Althecdfsac, 5>6  Ohfal Acrftz Erua Nhrdcs Lguhrgc ^plni-Ahrtfks  Fsheldh Ahrfh Pfktc gl Cdfvlfrh Ufzzc Ufzzc

87 Ncaefkhâîc gl Wænkfnhs Nftcacdlnudhrls phrh Gfhbkþstfnc? Lxlapdc gl uah Gclkâh Altheþdfnh,  522 

 Mæntcr Kfncdès ^luèklz ^luèklz Herlu Herlu  Ahráh Eldæk Ufvlrc Ufvlrc Phrfs  Ulkhth Cdfnfc Ohrgfa Ohrgfa gcs ^hktcs Nrfstfhkl Ucgrfbuls Dfah Nfeldl Ucgrfbuls Eckvfnfkc  Afbuld Åkbldc Ahrtfks Acrlfrh Acrlfrh  Ouhk Ndfktck Ddlrlkh Ddlrlkh Or. Or.  vfff

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8< Wlrhpfhs Nldudhrls l Efclkblkmhrfh Wlnfguhd,  56<  Uhgcvhk Ecrcolvfn Ecrcolvfn  Hdlx Ehdgufkc

 >88 8 8:  Nædudhs-trcknc ‗ Blk÷afnh Juknfckhd l Hpdfnhâüls Wlrhpïutfnhs,  >8 Cswhdgc Ilftm Cihactc Nhrdcs Hdelrtc Acrlfrh-Jfdmc

82  Blk÷afnh l Nhrgfcdcbfh,  >56  Mhks Jlrkhkgc Ucnmh Gcmahkk Gcmahkk  Ocîc Hdlxhkgrl Hdlxhkgrl Ulzlkgl Hsshg  ^uzhkh Hdvls ^fdvh  Hkgræ Dufz ^fdvlfrh ^cush ^cush  Ucgrfbc Zlrkly Zlrkly Nhstlddc Erhknc Erhknc Nmrfstfkl gh Actth Uutmljcrg 

8= Blk÷afnh ghs Gclkâhs Klurcausnudhrls l Klurcglblklrhtfvhs,  >7<  Ahyhkh _htz

86 Blk÷afnh l Ckncdcbfh, >:> Ldfgh Phudh Elkqufqul Cocpf Laahkuld Gfhs Kltc

 50 Blk÷afnh l Dlunlafh, >=6 Bfcrbfc Hgrfhkc Phsiudfk Phudc Ufnhrgc Bhzzcdh _lk

 58 Blk÷afnh l Faukcdcbfh, 706  Ocrbl Ihdfd  Hkkh Nhrdh Bcdgelrb  Dufz Zfnlktl Zfnlktl Ufzzc

Faukcblkætfnh lkætfnh l Ulsfstïknfh h Fkjlnâüls,  7>2   55 Faukcb Csvhdgc Hubustc ^hkt·Hkkh Jdèvfh Hjcksc Dfah

 Ahrnldc gl Jrhknc  Ahrnldc Crdhkgc Bhrnfh Ufelfrc

 5> Zhnfkhs Bïkfnhs,  7:>

Nædfc Dcpls ^fdvh Zåkfh Dufzh Glplrck Eckhtc  Hrdltl Hphrlnfgh Hphrlnfgh Ahrtfks Ncldmc Nhstldc Ihrdh gl Aldc Dfah  Ocsæ Ahnfld Ucgrfbuls Oÿkfcr  Oÿkfcr 

 57 Zhnfkhs gl GKH, 76< ^ærbfc Ncsth Cdfvlfrh

 5< Blrfhtrfh Blk÷afnh,   Fvhkh Elhtrfnl Aåkfnh gh Nruz  Ahrfstldh Whujlr  Whujlr  Laádfc Mfglyuif Acrfbunmf © Gfrlftcs rlslrvhgcs à LGFWCUH HWMLKL\ DWGH

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Pcpudhnf ckhfs kh Lrh gh Algfnfkh Blk÷afnh, <  5:  Wlstls Pcpudhnfckhfs  Ucelrtc Bfubdfhkf Phtránfh Hsmtck-Pr Hsmtck-Prcddh cddh

 52  Gfhbkþstfnc Præ-Khthd,  0

 Khknl Elylr Khrgf Khrgf  Hrahkgc Acrhfs Zlkturh Zlkturh

 >8 Blk÷afnh la Phrhsftcdcbfh, :7> Lgaukgc Nhrdcs Brfshrg   Aèrfc ^tlfkgld

 >5 Jhrahncblk÷afnh,

::>

 Ahrh Mldlkh Mutz  Ahrfdu Jflblkehua

PHUWL FFF ‗ BLK×AFNH ZLBLWHD ‗ FAPHNWC KH ^HßGL M\AHKH  >> Blkætfnh l Aldmcrhalktc Zlblthd, :26  Ahrfh Dunfh Nhrklfrc Nhrklfrc Zflfrh Zflfrh  Khthd Hktckfc Zlddc Zlddc  Aèrnfc gl Nhstrc Nhstrc ^fdvh Jfdmc

 >7 H Hbrcplnuèrfh Acdlnudhr, 20< Ldáefc D. Ulnm Jfdmc

 >< Pdhkths Wrhksbïkfnhs, 258

 Ahrfh Mldlkh Ecghklsl _hklttfkf Bfhknhrdc Phsquhdf

Lstrhtæbfhs phrh Acgfjfnhâîc gl Nhrhntlrástfnhs Kutrfnfckhfs gl Pdhkths, 2>2   >:   Ufnhrgc Hktukls Hzlvlgc Hktukls  x 

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 >2  Ncksfglrhâüls scerl h ^lburhkâh gl Hdfalktcs Blkltfnhalktl Acgfjfnhgcs, 2  Ahrádfh Ulbfkf Kuttf Lgsck Rhthkhel

 >= Crbhkfsacs Blkltfnhalktl Acgfjfnhgcs? Faphntc gc Jduxc Bïkfnc, 2:2  Jrhknfsnc Ocsæ Dfah Hrhbîc

 >6 Hdfalktcs Juknfckhfs, Blk÷afnh l Efctlnkcdcbfh, 2=< Jrhknc A. Dhocdc

Wlrhpïutfnhs ghs Ehntærfhs gc Ènfgc Dèntfnc, =08  70 Kcvhs \tfdfzhâüls Efctlnkcdþbfnhs l Wlrhpïutfnhs Zhsnc Hrfstck gl Nhrvhdmc Hzlvlgc  Hkglrsck Afycsmf

 78 Kutrcdcbfh, ^hÿgl l Blk÷afnh Kutrfnfckhd. Kutrcblk÷afnh, =86  Ocsæ Lguhrgc Lguhrgc Gutrh gl Cdfvlfrh  Oÿdfc ^ærbfc Ahrnmfkf Ahrnmfkf

Hdfalktcs Blkltfnhalktl Acgfjfnhgcs l ^hÿgl Muahkh, =><

 75

 Mædfc Zhkkunnmf Zhkkunnmf  Aèrnfhh Ldlkh _hkuttc  Aèrnf

 7> Jduxc Bïkfnc la Pdhkths, =:>  Ahbkc Hkt÷kfc Phttc Uhahdmc  Khrh Cdfvlfrh ^fdvh

 77 Hdfalktcs l Nudturhs Blkltfnhalktl Acgfjfnhgcs, ==<  Hsscnfhâîc Halrfnhkh Halrfnhkh gl Algfnfkh

 7< Efctlnkcdcbfh ‗ Hdfalkthâîc gc Juturc,  60<  Dufz Nhrdcs Jlglrfzzf Jlglrfzzf

 7:  Blk÷afnh Jdcrlsthd,  682   Ghrfc Brhtthphbdfh

L^PLNFHD EFC^^LB\UHKÂH

 72  JHC-CA^ ‗ Hvhdfhâîc gh ^lburhkâh gl Hdfalktcs Glrfvhgcs gl Afnrccrbhkfsacs Blkltfnhalktl Acgfjfnhgcs,  6>2 

 7= JHC-CA^ ‗ Hdfalktcs Blkltfnhalktl Acgfjfnhgcs gl Crfbla Zlblthd,  6-8>2:=, 5008. •• Rccg , Bwfddfha U, Uhohkgrlha Uhohkgrlha A-H,E,Dykl Dykl U, ^tlwhrt lt hd. cj ^nmfzcshnnmhrcaynls pcael. Khturl pcael. 7800->8>, 20?>00->8>, 5005. 5005. • ^hdzh ^hdzhkc kc JA, ^nmôdlr-Jhn ^nmôdlr-Jhnnfkf nfkf D. Plrjfd Plrjfd ætfnc gcs plsqufshgcrls plsqufshgcrls la blkætfnh. blkætfnh. Efcætfnh Efcætfnh 80?8>-56, 80?8>-56, 5005. • Ahris O.O. Wml jhnls jhnls cj lublkfns lublkfns.. Lvcd Hktmr Hktmrcpcd cpcd 88?57688?576-57:, :, 5005. • Gl dh Nmhplddl Nmhplddl H. Fkmlrftlg muahk gfslhsls? gfslhsls? vfntcrfls, vfntcrfls, nmhddlkbls, gfshppcfktalkts. gfshppcfktalkts. Ha O Mua Blklt 25?5>:-570, 500>. • ^hdzhkc JA. Phsshgc, prlslktl l juturc gh muahkfghgl. C qul h tlnkcdcbfh kcs prcaltl3 Efctlnk Efctlnk Nfïkn Glslkv Glslkv 52?70-72, 5005.

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FKWUCG\ÂÎC

Prþdcbc cu Lpádcbc3 Fsháhs Uhw

Mè 0, c erhsfdlfrc Ochqufa Wrhvhsscs puedfncu kc Erhs Alg 77?:66-205, c hrtfbc Kcth scerl c Jlk÷alkc gh Hbdutfkhefdfghgl Wrhksafssávld gl Nhkthnuzlkl l Ecknfu, kc quhd rlprcguz c jlk÷alkc gcs plsqufshgcrls rcalkcs l, hpþs gfjlrlktls hkèdfsls, sublrl qul glvlrfh cncrrlr hescrâîc l fktlbrhâîc gl ua ldlalktc lsplnájfnc, phrh qul mcuvlssl trhksafssîc mlrlgftèrfh kc prcnlssc gl trhksjcrahâîc ghs ehntærfhs (rlj. la Wrhvhsscs DU, H^A Klws 7