...sion2SItedmins0SItnofpages3SItnofords795SItnofchar
s4534SItnofcharss5319SItvern16437SStltrsect tendnotestaendnotestaftnstart0thyphhotz0taftnnartn
ospaceforultlytprtmetthyphcaps0thorzdoctdghspace120
tdgvspace120tdghorigin1701tdgvorigin1984tdghsho1tdg
vsho0tjexpandtviekind1tviescale85tpgbrdrheadtpgbrdr
foottbdrrlssixthtmautsptnolnhtadjtbltoldastrsidroot
16058183 tdonotshomarkup1tfet0tltrpar tsectd tltrsecttlinex0tendnheretsectdefaultcltsaftnnartsa
ftnstart0 Ittpnseclvl1tpnucrmtpnqctpnstart1tpnindent720tpnha
ng Itpntxta .SSIttpnseclvl2tpnucltrtpnqctpnstart1tpnindent720t
pnhang Itpntxta .SSIttpnseclvl3tpndectpnqctpnstart1tpnindent720tpn
hang Itpntxta .SSIttpnseclvl4tpnlcltrtpnqctpnstart1tpnindent720t
pnhang Itpntxta SSIttpnseclvl5tpndectpnqctpnstart1tpnindent720tpnh
ang Itpntxtb SItpntxta SSIttpnseclvl6tpnlcltrtpnqctpnstart1tpnindent720tp
nhang Itpntxtb SItpntxta SSIttpnseclvl7tpnlcrmtpnqctpnstart1tpnindent720tpn
hang Itpntxtb SItpntxta SSIttpnseclvl8tpnlcltrtpnqctpnstart1tpnindent720tp
nhang Itpntxtb SItpntxta SSIttpnseclvl9tpnlcrmtpnqctpnstart1tpnindent720tpn
hang Itpntxtb SItpntxta SStpardtplain tltrpartqc tli0tri0tidctlpartnooverflotfaromantrin0tlin0titap
0 trtlchtfcs1 taf0tafs20talang1025 tltrchtfcs0 tfs20tlang1033tlangfe1033tcgridtlangnp1033tlangfen
p1033 Itrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs36tinsrsid4211298 CAPACITATEA UNOR BOLI DE A SE TRANSMITE EREDITARtpar Stpard tltrpartql tli0tri0tidctlpartnooverflotfaromantrin0tlin0titap
0 Itrtlchtfcs1 taf0 tltrchtfcs0 tf1tlang1048tlangfe1033tlangnp1048tinsrsid4211298 tpar tpar Stpard tltrpartqc tli0tri0tidctlpartnooverflotfaromantrin0tlin0titap
0 Itrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 tpar Stpard tltrpartql tli0tri0tidctlpartnooverflotfaromantrin0tlin0titap
0 Itrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 ttab Capacitatea unor boli sau trasaturi de a fi transmise ereditar a fost cunoscuta intuita inca de cand se practica medicina, si insusi SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 HippocratesSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 stia ca unele trasaturi si boli pot avea caracter familial.tpar ttab Pana la inceputul secolului al douazecilea, ereditatea era considerata a fi o imbinare de continuitate si variatie de trasaturi si caractere, si se pare ca si Hippocrates stia aceastaSItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 . Momentul critic in cunoasterea legilor transmiterii ereditare este reprenzentat insa de memorabila lucrare a lui Johann Mendel, intitulata Cercetari asupra hibrizilor vegetali aparuta in 1865.SItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 In cele cateva pagini, cat contine lucrarea, sunt prezentate rezultatele unor ani de cercetari staruitoare, comparabile ca importanta teoretica si consecinte practice cu opera lui SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 Pasteur SItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 asupra fermentatiei butirice.tpar ttab Dat mult timp uitarii si redescoperit ulterior, SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 MendelSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 a reintrat in actualitate si, printre primele boli ereditare inscrise in tipare mendeliene , a fost alcaptonuria, boala descrisa in 1902 de SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 Garrod.SItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 Curind dupa aceasta remarcabila observatie de patologie umana ereditara, a fost identificat un mare numar de SItrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 boli atribuiteSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 SItrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 efectelor deletorii ale prezentei unei singure gene umane mutanteSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 . Acestea au fost numite SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 boli monogeneticeSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 iar catalogul bolilor sau tulburarilor plauzibil care sau dovedit a avea o baza mendeliana a totalizat in scurt timp SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 1364 de entitatiSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 . Termenii dominant si recesiv au patruns adinc in vocabularul mendelian al patologiei umane si, multe boli care nu au o baza veritabila in ereditatea mendeliana dovedita au continuat sa poarte aceasta eticheta, mai mult, pentru orice boala despre care se putea afirma ca prezumtiv ar putea avea o baza genetica se declansau eforturi sustinute pentru a fi interpretata mendelian.tpar ttab O ulterioara descoperire critica a survenit in anul 1959 cind a fost descrisa prima tulburare determinata de o aberatie SItrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 cromozomica SItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 numerica SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 sindromul DonSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 , consecinta a trisomiei 21. In urmatorii citiva ani au fost descoperite numeroase alte sindroame determinante de aberatii cromozomice. Se vorbeste in prezent de SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 sute de noi sindroame cromozomiceSItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 cele mai multe fiind identificate in ultimii ani ca urmare a utilizarii tehnicilor curenete de bandare si a noii tehnici - SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 aplicarea tehnologiei ANDSItrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 SItrtlchtfcs1 taf0 tltrchtfcs0 tbtitf1tfs28tinsrsid4211298 recombinat, colorarea cu distamicin DAPI, bandarea Cd.SItrtlchtfcs1 taf0 tltrchtfcs0 tf1tfs28tinsrsid4211298 Considerind ca viata fiintei umane incepe in momentul fertilizarii ovulului trebuie sa se recunoasca ca anomaliile cromozomice reprezinta cea mai larga categorie de cauze de moarte la specia umana. Efectele aneuploidiei asupra dezvoltarii includtpar Itpntexttpardtplaintltrpar trtlchtfcs1 taf0tafs20 tltrchtfcs0 tf3tfs28tlang1033tlangfe1033tlangfenp1033tinsrsid4
211298 tlochtaf3tdbchtaf0thichtf3 tb7ttabSStpard tltrpartql tfi-360tli1080tri0tidctlparttx1080Ittpn tpnlvlbodytilvl0tls1tpnrnot0tpnf3 Itpntxtb tb7SStnooverflotfaromantls1trin0tlin1080titap0tpar
arsid16058183 Itrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 malformatii congenitatle multiple, sub forma de anomalii minore sau majoretpar Itpntexttpardtplaintltrpar trtlchtfcs1 taf0tafs20 tltrchtfcs0 tf3tfs28tlang1033tlangfe1033tlangfenp1033tinsrsid4
211298 tlochtaf3tdbchtaf0thichtf3 tb7ttabSStpard tltrpartql tfi-360tli1080tri0tidctlparttx1080Ittpn tpnlvlbodytilvl0tls1tpnrnot0tpnf3 Itpntxtb tb7SStnooverflotfaromantls1trin0tlin1080titap0tpar
arsid16058183 Itrtlchtfcs1 taf0 tltrchtfcs0 titf1tfs28tinsrsid4211298 efecte deletorii asupra functiei SNC asociate cu retard mintaltpar Itpntexttpardtplaintltrpar trtlchtfcs1 taf0tafs20 tltrchtfcs0 tf3tfs28tlang1033tlangfe1033tlangfenp1033tinsrsid4
211298 tlochtaf3tdbchtaf0th...
Download