EREDITATE CONSERVAREA CARACTERELOR PARENTALE - SUB INFLUENTA FACTORILOR DE MEDIU

SUPORTUL MOLECULAR AL EREDITATII
MENDEL- 1865EREDITAR” notiunea de” FACTOR

GRIFFITH-1928– transformarea (diplococus pneumoniae)

bacteriană

AVERY, CARTY, MacLEOD, 1944 –ADN FACTOR TRANSFORMANT MODEL EXPERIMENTAL PE SOARECI INOCULATI CU TULPINI DE DIPLOCOCUS PNEUMONIAE: (VIRULENTE- S, NEVIRULENTE- R) 1) AMESTEC TULPINI R CU PROTEINE DIN TULPINI S
2) CULTIVAREA FORMEI R CU ARN DIN TULPINI S 3) CULTIVAREA TULPINII R CU CAPSULA MUCOPOLIZAHARIDICA DIN TULPINA S 4) CULTIVAREA TULPINII R CU ADN EXTRAS SI PURIFICAT DIN FORMELE S – AU APARUT COLONII VIRULENTE CARE INJECTATE LA SOARECI AU PROVOCAT MOARTEA ACESTORA 5) CULTIVAREA FORMELOR VII R CU ADN –S DISTRUS IN PREALABIL CU ENZIME- DN-AZA- SE OBTIN FORME R NECAPSULATE SI NEVIRULENTE

CONCLUZIE: ADN ESTE SUPORTUL EREDITATII

Watson and Crick (1953) DNA is a double helix.The Big Bang Alfred Hershey and Martha Chase (1952) DNA is genetic material. .

. INFORMATIA ADN POATE FI DECODIFICATA SI TRANSMISA ARN→ SINTEZA DE PROTEINE → CARACTERE (dogma centrală a geneticii moleculare). ARE CAPACITATE DE SINTEZA ( AUTOREPLICARE). INFORMATIA DETINUTA FIIND ACCESIBILA. PRIN RECOMBINARE SI ARE O DISPUNERE LINIARA.IMPLICATIA IN EREDITATE ARE STRUCTURA SPECIFICA – SPECIFICITATE DE SPECIE PRIN ORDONAREA BAZELOR AZOTATE. ESTE SURSA DE VARIABILITATE MUTATIE.CARACTERE ADN .

NUCLEU 98% -CITOPLASMA.STRUCTURA ADN LOCALIZAREA CELULARA A ADN : . STRUCTURA PRIMARA : MACROMOLECULA CU GRAD INALT UNITATEA STRUCTURALA = NUCLEOTIDUL ( BAZA AZOTATA + PENTOZA+ REST DE FOSFAT ANORGANIC) .MITOCONDRIE – 2% DE POLIMERIZARE.

DNA Building Blocks Nitrogenous Base Pentose Sugar Triphosphate 5’ Phosphate 3’ Hydroxyl .

Nitrogenous Base Structure Pyrimidines Single Ring Bases (T and C) Purines Double Ring Bases (A and G) .

PE ACEST SCHELET SE ASEAZA BAZELE AZOTATE. . TIMIDINA NUCLEOZIDUL SE LEAGA PRIN C5 AL DEZOXIRIBOZEI DE ACIDUL FOSFORIC POLIMERIZAREA SE FACE PRIN LEGATURI FOSFODIESTERICE INTRE C3 AL DEZOXIRIBOZEI SI POZITIA C5 A NUCLEOTIDULUI URMATORSE REALIZEAZA O CATENA GLUCIDO FOSFORICA IN CARE DEZOXIRIBOZELE ALTERNEAZA CU GRUPAREA FOSFAT . FIECARE LANT POLINUCLEOTIDIC SE TERMINA CU O GRUPARE 5’ FOSFAT RESPECTIV 3’OH POLARITATE MOLECULEI ADN 3’→5’. GUANOZINA. CITIDINA.NUCLEOZIDUL = BAZELE AZOTATE LEGATE la C1 AL DEZOXIRIBOZEI Ex: ADENOZINA.

. The “backbone” has directionality (PO4 / OH).DNA Sugar-phosphate backbone serves as a “backbone”. Bases encode the genetic information.

CATENELE SUNT COMPLEMENTARE SI CODETERMINANTE.2 CATENE POLINUCLEOTIDICE LEGATE PRIN BAZELE AZOTATE COMPLEMENTARE: A-T si G-C. . -LEGATURI PRIN PUNTI DE HIDROGEN DUBLE SAU TRIPLE.STRUCTURA SECUNDARA A ADN . .

5’ PO4 3’ OH Anti-parallel Bonding 3’ OH PO4 5’ .

DOVEZI EXPERIMENTALE ALE STRUCTURII SECUNDARE A ADN .

•REGULA LUI CHARGAFF• BAZA RATIO A+T/G+C≠ 1 .

1% 33.1% 11.The First Clues to DNA Structure G 22.7% 13.4% 40.6% 9.6% .9 38.9% A T 28.0% 42.7% 39.1% 15.9% 19.4% 8.6% C 30.9% 8.1% 37.

PRINCIPIUL DENATURARII SI RENATURARII ADN (PRIN TEMPERATURI MARI(95 GRADE CELSIUS)/ MEDIU ALCALIN ). .

A ... C . T .. C . A ... T ........... A 5' A T G G G A C C T A G A A A T T T A C C C T G G A T C T T T A A 3' 3' P P OH OH .. T ... T A . T . G .Denaturation / Renaturation The bonds that hold DNA strands together are easily broken and reformed. C ..... C . G . A ... T . T ... G . T ........ 5' OH OH P P 3' 3' 5' 5' ....... C ..... A . A ..... T . C .... A . A . G .. A .... G ....... T .. G . ....

-CONSERVAREA INFORMATIEI GENETICE.DOVEZI EXPERIMENTALE ALE STRUCTURII SECUNDARE A ADN IMPORTANTA: -CAPACITATE DE AUTOREPLICARE. .APLICATII. .BIOLOGIA MOLECULARA. -TRANSCRIPTIE.

Polymerase chain reaction (PCR) .

PCR DNA Amplification .

STRUCTURA TERTIARA A ADN .

GUANINA ESTE LA EXTERIOR FIXEAZA RAPID SI STABIL SUBSTANTA CHIMICE CANCERIGENE .APARE IN INTERFAZA.LEVOGIR.FORME FIZICE ALE ADN ADN TIP A . DEPRESIUNILE SUNT DISPUSE OBLIC REVERSIBIL CU FORMA B ADN TIP B.G1+S ADN TIP Z. SPIRE MAI APROPIATE.ZAG ). SCHELETUL GLUCIDO FOSFORIC ESTE NEREGULAT(ZIG.DEXTROGIR.

Right Handed 10.6 bp/turn 19A Diameter “Normal DNA” Left Handed 12 bp/turn 18A Diameter dinucleotide repeats Pu-Py (GCGCGCGC) .7-11 bp/turn 23A Diameter dsRNA and RNA-DNA Hybrids From A to Z DNA Right Handed 10-10.

MITOCONDRIAL .CLASIFICAREA ADN IN RAPORT CU STRUCTURA PRIMARA .REPETITIV .NEREPETITIV DUPA STRUCTURA TERTIARA DUPA TOPOGRAFIA INTRACELULARA – NUCLEAR .

ADN NUCLEAR CANTITATEA DE ADN NUCLEAR NU ESTE DIRECT PROPORTIONALA CU GRADUL DE EVOLUTIE A SPECIEI NU EXISTA O CORELATIE NUMAR GENE – CANTITATE ADN EXPLICATIA: GENOMUL UMAN ARE 30000 GENE CE CONTROLEAZA CARACTERE CELULARE SI INDIVIDUALE .

10-15% DIN GENOMUL CELULAR UNITATEA REPETITIVA ARE O SECVENTA DE 2-10 NUCLEOTIDE REPETATE 105-107/ POT FI MAI MULTE SECVENTE DIFERITE RENATUREAZA RAPID NU EXISTA IN CROMOZOMUL Y NU SE TRANSCRIU IN ARNm ROL DISCUTABIL IN PROTECTIE SAU ORGANIZARE .ADN REPETITIV ESTE NONINFORMATIONAL INALT REPETITIV.

HISTOGENE. . ARNt.ADN REPETITIV MODERAT REPETITIV-25-30% DIN ADN CELULAR COEFICIENT DE REPETABILITATE DE 103-104 SECVENTA REPETITIVA 150-300 PERECHI DE NUCLEOTIDE INTERCALAT INTRE SECVENTELE NEREPETITIVE ARE ROL REGLATOR IN GENOMUL CELULAR LOC DE FIXARE PENTRU MOLECULELE IMPLICATE IN TRANSCRIPTIE EXISTA SECVENTE GENETIC ACTIVE.ARNr.

CGATTAGC-3’ ARE LUNGIME VARIABILA 6-12 NUCLEOTIDE STRUCTURA CU ASPECT DE « AC DE PAR » POATE CONTINE TRANSPOZONI ( GENE SARITOARE) IN GENOM EXISTA 120000 DE PALINDROAME ROL.RECUNOASTE ENZIMELE IMPLICATE IN REPLICAREA ADN SAU IN TRANSCRIPTIE ESTE RECUNOSCUT DE ENZIMELE DE RESTRICTIE SE INTILNESTE LA NIVELUL TELOMERELOR (TTAGGG)n. ARE SIMETRIE ROTATIONALĂ 5’.SECVENTA PARTICULARA DE ADN REPETITIV. PALINDROMUL ADN monocatenar: secvenţă în care ordinea nucleotidelor este aceeaşi în ambele direcţii. .

prima endonuclează caracterizată .Enzime de restricţie • În cazul ADN-ului bicatenar termenul “palindrom” semnifică o secvenţă citită identic în direcţia 5’→3’ pe cele 2 monocatene • Enzimele de restricţie taie ambele monocatene ale dublului helix de ADN atunci când recunoaşte o secvenţă specifică • Tăieturile pot apare la acelaşi nivel sau decalat pe cele 2 catene: 5’…GAATTC…3’ 3’…CTTAAG…5’ 5’…G -OH5’…GAATTC…3’ P-AATTC…3’ 3’…CTTAA -P 3’…CTTAAG…5’ HO-G…5’ • Secvenţa este recunoscută de EcoRI.

ADN NEREPETITIV SUNT SECVENTE UNICE REPREZINTA 50-70% DIN GENOM ALTERNEAZA CU CEL REPETITIV DIN CROMOZOM ESTE INFORMATIONAL .

GENOMUL MITOCONDRIAL REPREZINTA 1-2% DIN TOTALUL ADN CELULAR ESTE BICATENAR. CIRCULAR POATE SUFERI MUTATII CODIFICA 30 DE GENE STRUCTURALE DETINE 17000 DE PERECHI DE BAZE GENE IMPLICATE IN LANTUL RESPIRATORCITOCROM b CITOCROM-oxidaza. 22 GENE PENTRU ARNt SPECIFIC SI ARNr SINTEZA ACESTOR PROTEINE POATE FI INHIBATA MEDICAMENTOS NU ARE SECVENTE NONINFORMATIONAL ARE COD GENETIC PROPRIU . ATP-aza. IN DUBLU HELIX.

GENOMUL MITOCONDRIAL SE ASEAMANA CU ADN BACTERIAN SE REPLICA SEMICONSERVATIV INDEPENDENT DE ADN CROMOZOMIAL AVIND COMPLEX ENZIMATIC PROPRIU PENTRU REPLICARE SI TRANSCRIERE DETERMINA EREDITATEA MATROCLINA CARACTERELE SUNT DETERMINATE DE PLASMAGENE A CAROR TOTALITATE = PLASMOM MITOCONDRIAL .

Human Genome Project .

■ transfer related technologies to the private sector.S. Department of Energy and the National Institutes of Health ■ June 2000: Completion of a working draft of the entire human genome ■ February 2001: Analyses of the working draft are published ■ April 2003: HGP sequencing is completed and Project is declared finished two years ahead of schedule U. and social issues (ELSI) that may arise from the project.S. ■ improve tools for data analysis. 2003 .000 genes in human DNA. and ■ address the ethical.Human Genome Project Goals: ■ identify all the approximate 30. Milestones: ■ 1990: Project initiated as joint effort of U. ■ store this information in databases. ■ determine the sequences of the 3 billion chemical base pairs that make up human DNA. Department of Energy Genome Programs. legal. Genomics and Its Impact on Science and Society.

What does the draft human genome sequence tell us? By the Numbers • The human genome contains 3 billion chemical nucleotide bases (A. • The functions are unknown for over 50% of discovered genes.9%) nucleotide bases are exactly the same in all people. • The average gene consists of 3000 bases. and G). T.000 to 140. U. Genomics and Its Impact on Science and Society. • The total number of genes is estimated at around 30. but sizes vary greatly.4 million bases.000--much lower than previous estimates of 80. Department of Energy Genome Programs. C.000. with the largest known human gene being dystrophin at 2.S. 2003 . • Almost all (99.

Over time. • The human genome has a much greater portion (50%) of repeat sequences than the mustard weed (11%). and the fly (3%). these repeats reshape the genome by rearranging it. the worm (7%). • Repetitive sequences are thought to have no direct functions. . proteins • Repeated sequences that do not code for proteins ("junk DNA") make up at least 50% of the human genome. but they shed light on chromosome structure and dynamics. and modifying and reshuffling existing genes. creating entirely new genes.What does the draft human genome sequence tell us? The Wheat from the Chaff • Less than 2% of the genome codes for proteins.

000 13.000 30.6 billion 100 million 97 million 137 million 12.000 25. coli) Human immunodeficiency virus (HIV) . thaliana) Roundworm (C.How does the human genome stack up? Organism Genome Size (Bases) 3 billion 2.000 6. melanogaster) Yeast (S.200 9 Human (Homo sapiens) Laboratory mouse (M.6 million 9700 Estimated Genes 30.1 million 4. elegans) Fruit fly (D.000 3.000 19. cerevisiae) Bacterium (E. musculus) Mustard weed (A.

S. Department of Energy Genome Programs. protein synthesis. information content. genomics U. amount. and functions • Gene regulation • DNA sequence organization • Chromosomal structure and organization • Noncoding DNA types. and post-translational events • Interaction of proteins in complex molecular machines • Proteomes (total protein content and function) in organisms • Correlation of SNPs (single-base DNA variations among individuals) with health and disease • Disease-susceptibility prediction based on gene sequence variation • Genes involved in complex traits and multigene diseases • Developmental genetics. 2003 . and functions • Coordination of gene expression. Genomics and Its Impact on Science and Society.Future Challenges: What We Still Don’t Know • Gene number. distribution. exact locations.

Department of Energy Genome Programs. Genomics and Its Impact on Science and Society. 2003 .S.Anticipated Benefits of Genome Research Molecular Medicine • improve diagnosis of disease • detect genetic predispositions to disease • create drugs based on molecular information • use gene therapy and control systems as drugs • design “custom drugs” (pharmacogenomics) based on individual genetic profiles Microbial Genomics • rapidly detect and treat pathogens (disease-causing microbes) in clinical practice • develop new energy sources (biofuels) • monitor environments to detect pollutants • protect citizenry from biological and chemical warfare • clean up toxic waste safely and efficiently U.

Genomics and Its Impact on Science and Society.Anticipated Benefits of Genome Research-cont. and Human Migration • study evolution through germline mutations in lineages • study migration of different population groups based on maternal inheritance • study mutations on the Y chromosome to trace lineage and migration of males • compare breakpoints in the evolution of mutations with ages of populations and historical events U. 2003 .S. Anthropology. Risk Assessment • evaluate the health risks faced by individuals who may be exposed to radiation (including low levels in industrial areas) and to cancer-causing chemicals and toxins Bioarchaeology. Department of Energy Genome Programs. Evolution.

2003 . DNA Identification (Forensics) • identify potential suspects whose DNA may match evidence left at crime scenes • exonerate persons wrongly accused of crimes • identify crime and catastrophe victims • establish paternity and other family relationships • identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers) • detect bacteria and other organisms that may pollute air.Anticipated Benefits of Genome Research-cont.S. Genomics and Its Impact on Science and Society. Department of Energy Genome Programs. soil. water. and food • match organ donors with recipients in transplant programs • authenticate consumables such as caviar and wine U.

S.Medicine and the New Genetics Gene Testing  Therapy Pharmacogenomics  Gene Anticipated Benefits: • improved diagnosis of disease • earlier detection of genetic predispositions to disease • rational drug design • gene therapy and control systems for drugs • personalized. Genomics and Its Impact on Science and Society. 2003 . Department of Energy Genome Programs. custom drugs U.

2003 .S. • Fairness in the use of genetic information by insurers. among others. and the general public about capabilities. courts. and Social Issues • Privacy and confidentiality of genetic information. Department of Energy Genome Programs. stigmatization.ELSI: Ethical. Genomics and Its Impact on Science and Society. and social risks. and discrimination due to an individual’s genetic differences. Legal. people identified with genetic conditions. limitations. and implementation of standards and quality‑control measures. • Clinical issues including the education of doctors and other health-service providers. U. schools. adoption agencies. • Psychological impact. employers. • Reproductive issues including adequate and informed consent and use of genetic information in reproductive decision making. and the military.

Genomics and Its Impact on Science and Society. Department of Energy Genome Programs. • Fairness in access to advanced genomic technologies. 2003 .g.) • Uncertainties associated with gene tests for susceptibilities and complex conditions (e. and Alzheimer’s disease). • Conceptual and philosophical implications regarding human responsibility. • Commercialization of products including property rights (patents. U. and trade secrets) and accessibility of data and materials. diabetes. • Health and environmental issues concerning genetically modified (GM) foods and microbes. and concepts of health and disease. copyrights.ELSI Issues (cont. heart disease.S. free will vs genetic determinism..

HapMap An NIH program to chart genetic variation • Begun in 2002. • Consortium of researchers from six countries • Researchers hope that dramatically decreasing the number of individual SNPs to be scanned will provide a shortcut for identifying the DNA regions associated with common complex diseases • Map may also be useful in understanding how genetic variation contributes to responses in environmental factors within the human genome . and the United States. Asia. the project is a 3-year effort to construct a map of the patterns of SNPs (single nucleotide polymorphisms) that occur across populations in Africa.

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