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UNIVERSITATEA DE MEDICIN IFARMACIE V. BABE TIMIOARA Genetica medicala !"#. D!. Ma!ia $i$ e-mail:maria_puiu@umft.ro
SCURT
ISTORIC ICONINUTUL
GENETICIIMEIC!LE
mailto:maria_puiu@umft.romailto:maria_puiu@umft.ro -
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" #ome$iul #i$ me#i%i$& %are 'e o%up& %u#e'%ifrarea (i %u$oa(terea $aturii ere#itare a)olilor uma$e.
Stu#ia*& 'tru%turile+ le,ile (i me%a$i'mele #e)a*& ale tra$'miterii ere#it&ii #e la o ,e$eraie
la alta %ara%tere $ormale 'i patolo,i%e/.
Genetica medical
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ere#itate1lat./ " a mo(te$i+ Spe$%er+ 4879" pro%e'ul %are #etermi$& a'em&$area #i$tre
pari$i (i #e'%e$#e$i+ %are reali*ea*& le,&turaor,a$i%& #i$tre ,e$eraii+ a'em&$area #i$trea'%e$#e$i (i #e'%e$#e$i.
Co$'eratori'm ;aria)ilitate
Ereditatea
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http://www.msjc.edu/instructor/rmason/linked%20pages/biol134.htm -
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" totalitatea %ara%teri'ti%ilor morfolo,i%e+
a$atomi%e+ fi*iolo,i%e+ p'i
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-%ara%tere pur ere#itare,rupele 'a$,ui$eeritro%itare + protei$ele
pla'mati%e/.
- %ara%tere parialere#itare talia+,reutatea+ i$teli,e$&+
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>a%torii ,e$eti%i pot fi fa%tori etiolo,i%i#e%la$(atori 'au faori*a$i pe$tru patolo,iauma$&.
Su$t #e'%ri'e pe'te 46 666 #e afe%iu$i%o$#iio$ate ,e$eti%.
Su$t eti%
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Impli%aiile fa%torilor ,e$eti%i A$tul)ur&rile #e repro#u%ere uma$&:
'terilitate apro=imati 46B #i$ %upluri/+aorturi 'po$ta$e 6B aorturi #e primtrime'tru/+$a(teri #e fei mori$a(teri #e %opii %u a$omalii %o$,e$itale 9B/.
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i$tre o)ie%tiele ,e$eti%ii:e'%ifrarea pato,e$iei u$or )oli
multifa%torialee'%operirea u$or $oi %&i #ea)or#are a a%e'tor patolo,ii+ %u
(a$'e mai mari #e pree$ire+i$#e%are.
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Me#i%o-'o%ial:afe%iu$ile ,e$eti%e 'u$t o pro)leme '&$&tate pu)li%& i$flue$$#i$#i%atori %a $atalitatea+ mor)i#itatea+
mortalitatea.pri$ tra$'miterea A$ ,e$eraii $u'u$t o pro)lem& #oar a pa%ie$tului %ia familiei (i a populaiei #i$ %are fa%eparte.
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Abordarea strii de sntate i deboal este diferit de a anilor
trecui
Era genomicii
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http://images.amazon.com/images/P/0805071741.01.LZZZZZZZ.jpg -
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http://images.amazon.com/images/P/0805071741.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0333971434.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0684827050.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0393035727.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0940322951.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0807004510.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0253332133.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0789484153.01.LZZZZZZZ.jpghttp://images.amazon.com/images/P/0471599085.01.LZZZZZZZ.jpg -
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Descoperirile genetice vizeaz:
a'pe%te terapeuti%e+profila%ti%e+e%o$omi%e.
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#ia,$o'ti%ul ,e$eti%preimpla$tatoriu+pre'imptomati%+farma%o,e$omi%a+terapia ,e$i%&+or,. ,e$eti% mo#ifi%ate OGM/+%lo$area
Probleme sociale, etice:
http://images.google.ro/imgres?imgurl=http://www.imb.uq.edu.au/images/Genomics.jpg&imgrefurl=http://www.imb.uq.edu.au/index.html%3Fpage%3D11669%26pid%3D11669%26ntemplate%3D235&h=181&w=227&sz=21&hl=ro&start=13&tbnid=00M2vV3WibMymM:&tbnh=86&tbnw=108&prev=/images%3Fq%3Dgenomics%26gbv%3D2%26svnum%3D10%26hl%3Drohttp://images.google.ro/imgres?imgurl=http://www.imb.uq.edu.au/images/Genomics.jpg&imgrefurl=http://www.imb.uq.edu.au/index.html%3Fpage%3D11669%26pid%3D11669%26ntemplate%3D235&h=181&w=227&sz=21&hl=ro&start=13&tbnid=00M2vV3WibMymM:&tbnh=86&tbnw=108&prev=/images%3Fq%3Dgenomics%26gbv%3D2%26svnum%3D10%26hl%3Dro -
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upa parti%iparea fa%torilor ,e$eti%i
patolo,ia uma$& poate fi %la'ifi%at& A$:
)oli ,e$eti%e
)oli parial ,e$eti%e)oli epi,e$eti%e
DETERMINISMU% ATO%OGIEI UMANE
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Sind!"m&illiam'
http://images.google.ro/imgres?imgurl=http://www.williams-syndrome.ro/Anna%2520Maria%252019.12.2005.JPG&imgrefurl=http://www.williams-syndrome.ro/&h=664&w=463&sz=80&hl=ro&start=4&um=1&tbnid=6NTTZD5hvPu6KM:&tbnh=138&tbnw=96&prev=/images%3Fq%3Dwilliams%2Bsyndrome%26svnum%3D10%26um%3D1%26hl%3Dro -
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http://images.google.ro/imgres?imgurl=http://journal.hsmc.org/ijnidd/uploadedImages/Figure1(2).GIF&imgrefurl=http://journal.hsmc.org/ijnidd/articlestemplate.asp%3Fid%3D132&h=387&w=591&sz=5&hl=ro&start=64&um=1&tbnid=qdPoooeKzCsJ0M:&tbnh=88&tbnw=135&prev=/images%3Fq%3Dmultifactorial%2Bdisorders%26start%3D60%26ndsp%3D20%26svnum%3D10%26um%3D1%26hl%3Dro%26sa%3DN -
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http://images.google.ro/imgres?imgurl=http://www.humanillnesses.com/images/hdc_0000_0001_0_img0024.jpg&imgrefurl=http://www.humanillnesses.com/Behavioral-Health-A-Br/Birth-Defects-and-Brain-Development.html&h=230&w=355&sz=27&hl=ro&start=4&tbnid=Ej4qrepuy9YaKM:&tbnh=78&tbnw=121&prev=/images%3Fq%3DSpina%2BBifida%2B%26gbv%3D2%26svnum%3D10%26hl%3Dro%26sa%3DG -
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re#e'%oper& le,ile ere#it&ii (i #emo$'trea*&ala)ilitatea lor u$ier'al& i$ tra$'miterea
%ara%terelor mo$o,e$i%e.
4566+ Carl Corre$'u,o #e ;rie' (i Eri%
