Presentación del estudio genetico

7/30/2019 Presentacin del estudio genetico

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BFCHJM^RFNM HKJKRFNM KJ JFM^ VCBMAK^NKJRK^ NMJ R\C^RM\JM^BKA K^PKNR\M C[RF^RC $RKC&

P\MVKNRM NMACLM\CRFWM KJR\K AC G[JBCNFMJ EC\FC OM^KOMWK $GEOO&! AC G[JBCNFMJ P[LAFNC HCAKHC BK EKBFNFJC

TKJMEFNC $GPHET& V KA ^K\WFNFM HCAKHM BK ^C[BK$^K\HC^&

Am|kjc Hekz H{k||k|m* P~fs{fcr|c fjgcjrm% o{wkjfa v Bf|knrm|c najfnc bka P|mvknrm*
http://www.fundacionmariajosejove.org/http://www.sergas.es/Portada.aspx?IdPaxina=0http://www.sergas.es/Portada.aspx?IdPaxina=0


2/15

FJR\MB[NNFMJ? C^PKNRM^ HKJKRFNM^ Ka RKC k~ {j r|c~rm|jm bka Jk{|mbk~c||maam nmj {jc nac|c lc~k lfmahfnc v

nmj {jc fepm|rcjrk nc|hc hkjrfnc*

Ka RKC ~k nmj~fbk|c ka r|c~rm|jm jk{|mp~fs{fcr|fnm nmj ecvm| rc~c bkdk|kbclfafbcb $nmjnm|bcjnfc kj hkekam~ emjmzfhrfnm~ 70%40+ kjbfzfhrfnm~ 30%


3/15

FJR\MB[NNFMJ? C^PKNRM^ HKJKRFNM^ K~r{bfm~ hkjrfnm~ bk 3 ajkc kj pcnfkjrk~ nmj RKC? nc|fmrfpm

nmjwkjnfmjca v k~r{bfm emakn{ac| bk T g|hfa! rfkjkj {jc lcoc|kjrclfafbcb bfchj~rfnc $1;+&*

Ka kepakm bk j{kwc~ rnjfnc~ emakn{ac|k~ $NHD%c||cv- pcjkak~ bkec|ncbm|k~ bk carc bkj~fbcb& pm~flfafrc ac bkrknnfj bk cjmecac~

hkjrfnc~ $NJW~- ^JP~& jm bkrknrclak~ kj {j k~r{bfm bk nc|fmrfpmnmjwkjnfmjca*

Am~ cwcjnk~ kj fjwk~rfhcnfj hkjefnc dcj pm~flfafrcbm s{k dc~rckj {j


4/15

FJR\MB[NNFMJ? C^PKNRM^ NAFJFNM^

Ka RKC ~{pmjk {j h|{pm e{v dkrk|mhjkm najfncekjrk $pm~flfafbcb bkbkgfjf| earfpak~ ~{lh|{pm~&! am s{k bfgfn{arc| kjm|ekekjrk kabfchj~rfnm nc{~ca*

Ac krfmamhc bka RKC! c ktnkpnfj bka ~jb|mek bk \krr $e{rcnfj kj ka

hkj EKNP

Ka bfchj~rfnm bka RKC k~ kjrk|cekjrk najfnm $n|frk|fm~ BÊ%FW%R\- & vc bc bk dmv jm ktf~rkj ec|ncbm|k~ lfmahfnm~*

Kj cah{jm~ nc~m~ ka n{cb|m c{rf~rc k~ {j c~pknrm bk {jc nmjbfnfjhkjrfnc fbkjrfgfnclak $C[RFÊM ^FJB\MEFNM& ! ~fj kelc|hm am e~g|kn{kjrk k~ s{k jm ~kc pm~flak bkrk|efjc| ac nc{~c ~{lvcnkjrkk~pkngfnc $C[RFÊM FBFMPCRFNM&*


5/15

NC\CNRK\F^RFNC^ BKA K^R[BFM

K~r{bfm ml~k|wcnfmjca v bk~n|fprfwm bk {jc nmdm|rk bk {jejfem bk 300 pcnfkjrk~ ekjm|k~ bk kbcbbfchjm~rfncbm~ bk RKC*

K~r p|kwf~rc {jc b{|cnfj bka k~r{bfm $|knmhfbc vkwca{cnfj bk ac e{k~r|c& ! kj rm|jm c am~ bm~ cm~!~fkjbm c pc|rf| bk kjrmjnk~ n{cjbm ~k |kcafzc| ka cjaf~f~bk am~ bcrm~ |knmhfbm~*

Ka k~r{bfm ~k aakwc| c nclm kj ac GPHET pk|m rcelfj ~kwcam|c| ac pm~flfafbcb bk p|mnkbk| nmj ac kwca{cnfjnajfnc bk am~ pcnfkjrk~ kj ac~ ~kbk~ bk ac~ |k~pknrfwc~C~mnfcnfmjk~ bk C{rf~em c ac~ s{k k~rj wfjn{acbm~*


6/15

< nmpfc~ bk ncbcn|mem~mec

NJW? Wc|fcnfj kj ka jek|m bk nmpfc~ bk {j ~khekjrm bk CBJ

B[PAFNCNFJbk {j ~khekjrm bk CBJ

BKAKNFJbk {j ~khekjrm bk CBJ

> nmpfc~|khfj wk|bk

3 nmpfc|khfj wk|bk

< nmpfc~ bkncbc |khfj

K^S[KECBK [JC\KHFJ BKA HKJMEC


7/15

NC\CNRK\F^RFNC^ HKJKRFNC^ BKA K^R[BF K~r{bfm bk Hkjmec nmepakrm* K~rm~ k~r{bfm~ dcj pk|efrfbm

kjnmjr|c| wc|fcjrk~ nme{jk~ kj ac pmlacnfj s{k p{kbkjp|kbf~pmjk| c RKC*

Mlokrfwm? L{~nc| hkjk~ m |khfmjk~ hjfnc~ fjwma{n|cbc~ kj RKC*

Rnjfnc emakn{ac| kepakcbc? NHD% c||cv~- pcjka bk ^JP~ bk carcbkj~fbcb $Nvrm^ncj&* Cjcafzc| nfkjrm~ bk ~khekjrm~ bk CBJbf~r|fl{fbm~ pm| rmbm ka hkjmec d{ecjm* Pk|efrf| bkrknrc|wc|fcnfmjk~ ~fepak~ bka hkjmec $p|bfbc m b{pafncnfj bk |khfmjk~hkjefnc~&*

Kj cs{kaam~ nc~m~ bmjbk jm gfh{|k k~r{bfm p|kwfm! ~k p|mnkbk|rcelfj nmj {j cjaf~f~ n|mem~efnm $nc|fmrfpm- T g|hfa&*


8/15

DFPMRK^F^ V MLOKRFWM^ BKA K^R[BFM

Ac {rfafzcnfj bk j{kwc~ rknjmamhc~ hkjefnc~nmem efn|mc||cv~ $ndfp~ bk CBJ& nmjr|fl{f| c{jc ecvm| bkrknnfj bk ac~ cark|cnfmjk~

hkjrfnc~ fepafncbc~ kj am~ R|c~rm|jm~ bkaK~pknr|m C{rf~rc $RKC&

Fjwk~rfhc| kj ekjm|k~ nmj RKC! ac~ pm~flak~nc{~c~ hkjrfnc~ bk k~rk r|c~rm|jm v c~nmjr|fl{f| c {j ekom| kjrkjbfefkjrm bk ackrfmpcrmhkjfc bka ef~em*


9/15

NC\CNRK\F^RFNC^ BK AC E[K^R\C BKPCNFKJRK^ C FJNA[F\ KJ KA K^R[BFM

N{cas{fk| ekjm| nmj {j |cjhm bk kbcb nmep|kjbfbmkjr|k am~ > v am~ 34 cm~ s{k p|k~kjrk {j bfchj~rfnm bkRKC $~khj n|frk|fm~ B^E%FW&*

^k pm~flfafrc| ac p|k~kjnfc bk kjgk|ekbcbk~ ebfnc~v-m bf~ncpcnfbcb fjrkaknr{ca*

^k pm~flfafrc| ac p|k~kjnfc bk mr|m~ r|c~rm|jm~

jk{|mp~fs{fr|fnm~ $pk? RBCD&*

^k pm~flfafrc| ac fjna{~fj bk ekjm|k~ cgknrm~ bk {j~jb|mek hkjrfnm nmjn|krm ~fkep|k v n{cjbm cpc|kzncc~mnfcbm c nmjb{nrc~ c{rf~rc~*


10/15

MLRKJNFMJ BK AC E[K^R\C

Nmaclm|cnfj bk bfgk|kjrk~ C~mnfcnfmjk~ bkC{rf~em bk Hcafnfc $C^PCJCK^! EKJKAC! LCRC!**&p|kwfm nmj~kjrfefkjrm bka pcnfkjrk v ~{~

pcb|k~-r{rm|k~ akhcak~*

Pm~flak cnnk~m bf|knrm bk pcnfkjrk~ c ac ~kbk bk ac

G{jbcnfj Plafnc Hcakhc bk Ekbfnfjc Tkjefncp|kwfc kjr|kwf~rc nmj ac bf|knrm|c najfnc bkap|mvknrm*

K%ecfa ? p|mvknrmhkjkrfnm@g{jbcnfmjec|fcom~komwk*m|h


11/15

\KNMHFBC BK BCRM^FJ^R\[EKJRM^ BK WCAM\CNFJ NAFJFNC

Df~rm|fc najfnc bkrcaacbc nmj wf~rc~ c acnmjgf|ecnfj bka bfchj~rfnm bk RKC v c acmlrkjnfj bk fjgm|ecnfj ebfnc |kakwcjrk

$fepm|rcjnfc bk cjrknkbkjrk~ pk|~mjcak~ vgcefafc|k~&*

Kepakm bk kjr|kwf~rc bfchj~rfnc p~fs{fr|fnc~

~kef % k~r|{nr{|cbc $I^CB^% PA& Kepakm bk kjr|kwf~rc k~pkngfnc ~ml|k RKC $CBF%\&

Kepakm bk wc|fm~ n{k~rfmjc|fm~ $NLNA! ^NS!NHF%^!&


12/15

\KNMHFBC BK BCRM^FJ^R\[EKJRM^ BK WCAM\CNFJ

P^FNMEKR\FNC

Wcam|cnfj bka jfwka nmhjfrfwm bka ekjm|

$ k~rfecnfj bka Nmnfkjrk fjrkaknr{ca& ekbfcjrkk~ncac~ bk fjrkafhkjnfc $XF^N%FW- XCF^%FFF&*

K~r{bfm bk G{jnfmjk~ Kokn{rfwc~ v ncpcnfbcbk~Crkjnfmjcak~ kj ka ekjm|*


13/15

\KNMHFBC BK E[K^R\C^ LFMAMHFNC^

Ktr|cnnfj bk ~cjh|k pc|c cjaf~f~ hkjrfnm*

^k fjrkjrc| s{k Ac~ ktr|cnnfmjk~ p{kbcj ~k||kcafzcbc~ kj bfgk|kjrk~ elfrm~ ? dm~pfrcac|fm!$GPHET&! C~mnfcnfmjk~ bk c{rf~em! $~khj acp|kgk|kjnfc bk pcnfkjrk-gcefafc~&*


14/15

GC^K^ BKA K^R[BFM

P\FEK\C GC^K Nmjgf|ecnfj bka bfchj~rfnm bk RKC $ bmn{ekjrcnfj

najfnc! kjr|kwf~rc l|kwk nmj pcb|k~&

Ktr|cnnfj bk ~cjh|k ca ekjm|

^KH[JBC GC^K ^macekjrk cs{kaam~ nc~m~ bmjbk ~k kjn{kjr|k {jc

pmrkjnfca nc{~c hkjrfnc~k|j ncjbfbcrm~ pc|c pc~c| c ac

~kh{jbc gc~k Kwca{cnfj najfnc $ kjr|kwf~rc c pcb|k~ v ekjm|!

n{epafekjrcnfj bk n{k~rfmjc|fm~&

Kwca{cnfj jk{|mp~fnmahfnc bka ekjm|

Ktr|cnnfj bk ~cjh|k c am~ pcb|k~


15/15

FEPAFNCNFMJK^ NAFJFNC^ G[R[\C^

Nmjr|fl{f| ca bfchj~rfnm hkjrfnm bk am~ RKC $kj am~ nc~m~kj s{k ~kcem~ ncpcnk~&*

Pk|efrf| mg|knk| nmj~kom hkjrfnm ~ml|k ka |fk~hm bk|kn{||kjnfc*

Pk|efrf| nmjmnk| ac nm||kacnfj hkjmrfpm%gkjmrfpm!k~r{bfcjbm ac |kacnfj kjr|k ac~ nc|cnrk|~rfnc~ najfnc~ nmjac cark|cnfj hkjrfnc ~{lvcnkjrk*

Ekom| kjrkjbfefkjrm bk ac pcrmhkjfc bka r|c~rm|jm am n{cacv{bc| c bk~c||maac| ermbm~ j{kwm~ bk bfchj~rfnm$pm~flfafrc| bkrknnfj p|knmz k fjna{~m bfchj~rfnmp|kjcrca& v r|crcefkjrm pc|c k~rk r|c~rm|jm *

Presentación del estudio genetico

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