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Evaluación del desequilibrio gamético dependiente de marcador en el brazo corto del cromosoma 11 humano : estudio de asociación con la otosclerosis

Rodríguez Murillo, Laura

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Evaluación del desequilibrio gamético dependiente de marcador en el brazo corto del cromosoma 11 humano. Estudio de asociación con la otosclerosis Evaluación del desequilibrio gamético dependiente de marcador en el brazo corto del cromosoma 11 humano. Estudio de asociación con la otosclerosis Facultad de Biología Departamento de Genética Tesis Doctoral Laura Rodríguez Murillo Tesis Doctoral Laura Rodríguez Murillo    )$&8/7$''(%,2/2*Ë$ 'HSDUWDPHQWRGH*HQpWLFD                         0(025,$35(6(17$'$325 /$85$52'5Ë*8(=085,//2 3$5$237$5$/*5$'2'('2&725$(1%,2/2*Ë$ 6DQWLDJRGH&RPSRVWHOD,       (9$/8$&,Ï1'(/'(6(48,/,%5,2*$0e7,&2 '(3(1',(17('(0$5&$'25(1(/%5$=2&2572 '(/&5202620$+80$12 (678',2'($62&,$&,Ï1&21/$2726&/(526,6 (/ '5 &$5/26 =$3$7$ %$%Ë2 &$7('5È7,&2 '(/ '(3$57$0(172 '( *(1e7,&$'(/$81,9(56,'$''(6$17,$*2'(&203267(/$<(/'5 &$5/26 0$57,1 0$57,1 352)(625 7,78/$5 '(/ '(3$57$0(172 '( '(50$72/2*Ë$ < 27255,12/$5,1*2/2*Ë$ '( /$ 81,9(56,'$' '( 6$17,$*2'(&203267(/$    ,1)250$1  4XH HO WUDEDMR WLWXODGR ³(9$/8$&,Ï1 '(/ '(6(48,/,%5,2 *$0e7,&2 '(3(1',(17('(0$5&$'25(1(/%5$=2&2572'(/&5202620$ 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SRU HVR HV PHMRU PHGLGD GH GLYHUVLGDG OD HVWLPD LQVHVJDGD GH OD KHWHUR]LJRVLV HVSHUDGD  H K Ö SDUD FDGD ORFXV 1(, < 52<&+28'+85<  1(,  0DWHULDO\0pWRGRV     Ö  Ö  −      − = ∑ = 1 S1 K N L L H  /D HVWLPD GH OD KHWHUR]LJRVLV SURPHGLR  + Ö SDUD XQ FRQMXQWR GH U ORFL DQDOL]DGRVYLHQHGDGDSRUODH[SUHVLyQ  U K + U L L ∑ = =  Ö Ö  'RQGH L K ÖHVODHVWLPDLQVHVJDGDGHODKHWHUR]LJRVLVHVSHUDGDSDUDFDGD ORFXV  0DJQLWXG\VLJQLILFDFLyQGHODVGHVYLDFLRQHVGHODVSURSRUFLRQHV +DUG\:HLQEHUJ  0DJQLWXGGHODVGHVYLDFLRQHV  (Q OD OLWHUDWXUD VH KDQ GHVFULWR GLIHUHQWHV HVWLPDGRUHV SDUD PHGLU OD PDJQLWXG GH ODV GHVYLDFLRQHV JHQRWtSLFDV REVHUYDGDV GH ODV HVSHUDGDV SRU +DUG\:HLQEHUJ +: /, < +259,7=  &85,(&2+(1  :(,5 < &2&.(5+$0&+$.5$%257<<'$1.(5+23)((QQXHVWURFDVRKHPRV XWLOL]DGRHOHVWLPDGRU 7 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 +5$61VL,      ±      +$OX,      ±      +5VD,      ±      5507DT,      ±      +%%+LQI,      ±      +%*+LQG,,,      ±      $57+SD,,      ±      37+7DT,      ±      7SK'UD,,      ±      :7+LQI,      ±      76&      ±      76&      ±      76&      ±      76&      ±      76&      ±  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VLJQRSRVLWLYRTXHGHVLJQRQHJDWLYRVyORFXDQGRODV IUHFXHQFLDVDOpOLFDVGHORV ORFL LPSOLFDGRV VH GHVYtDQ VLJQLILFDWLYDPHQWH GH ODV LQWHUPHGLDV %52:1  =$3$7$HWDO=$3$7$HWDOE  '*HQWUHSDUHVGH613V  (QODILJXUDVHPXHVWUDODGLVWULEXFLyQGHODVIUHFXHQFLDVGHODLQWHQVLGDG GHO'*REVHUYDGRHQWUHSDUHVGH613VPHGLGRHQWpUPLQRVGHOFRHILFLHQWH'¶(Q ODWDEOD  VHPXHVWUDQORVHVWDGtVWLFRVGHVFULSWLYRV\ HO DMXVWHDODGLVWULEXFLyQ QRUPDOGHORVYDORUHVGH'¶                  )LJXUD'LVWULEXFLyQGHIUHFXHQFLDVGHORV'¶REVHUYDGRV GRQGH1HVHOQ~PHURGHSDUHVGH613VDQDOL]DGRV 5HVXOWDGRV   WpUPLQRVGH'¶PD\RUGH$VtSDUHFHTXHOD)5(HQWUHSDUHVGH613VHVWi LQIOX\HQGRWDQWRHQODFDQWLGDGFRPRHQODLQWHQVLGDGGHODVDVRFLDFLRQHV  7DEOD)UHFXHQFLDVGHUHFRPELQDFLyQHIHFWLYDVF0HQWUHSDUHVGH613V(Q VRPEUHDGRVHGHVWDFDQORVSDUHVGHORFLHQ'*VLJQLILFDWLYR   /2&86  ,163VW, ,16'UD,,, '5'6PD, +5$61VL, +$OX, +5VD, 5507DT, +%%+LQI, +%*+LQG,,, $57,+SD,, 37+7DT, 7S+'UD,, :7+LQI, 76& 76& 76& 76&  ,16'UD,,,      '5'6PD,   +5$61VL,                   +$OX,                +5VD,         '¶    5507DT,                   +%%+LQI,              +%*+LQG,,,              $57,+SD,,              37+7DT,            7S+'UD,,       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