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

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

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

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) .

FIECARE LANT POLINUCLEOTIDIC SE TERMINA CU O GRUPARE 5’ FOSFAT RESPECTIV 3’OH POLARITATE MOLECULEI ADN 3’→5’.PE ACEST SCHELET SE ASEAZA BAZELE AZOTATE. . CITIDINA. 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 . GUANOZINA.NUCLEOZIDUL = BAZELE AZOTATE LEGATE la C1 AL DEZOXIRIBOZEI Ex: ADENOZINA.

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

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

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% 37.9% A T 28.9% 19.1% 33.4% 40.6% C 30.0% 42.7% 39.The First Clues to DNA Structure G 22.9 38.6% 9.4% 8.1% 15.7% 13.6% .9% 8.1% 11.

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

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

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

Polymerase chain reaction (PCR) .

PCR DNA Amplification .

STRUCTURA TERTIARA A ADN .

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

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

ADN REPETITIV ESTE NONINFORMATIONAL INALT REPETITIV.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 .

ARNt. .ARNr.HISTOGENE.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.

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’.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. PALINDROMUL ADN monocatenar: secvenţă în care ordinea nucleotidelor este aceeaşi în ambele direcţii.SECVENTA PARTICULARA DE ADN REPETITIV.

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. prima endonuclează caracterizată .

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

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

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 .

Human Genome Project Goals: ■ identify all the approximate 30. legal. ■ improve tools for data analysis. ■ store this information in databases. ■ determine the sequences of the 3 billion chemical base pairs that make up human DNA.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. Genomics and Its Impact on Science and Society. and social issues (ELSI) that may arise from the project.S. ■ transfer related technologies to the private sector. Department of Energy Genome Programs. 2003 . and ■ address the ethical. Milestones: ■ 1990: Project initiated as joint effort of U.000 genes in human DNA.

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

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

How does the human genome stack up? Organism Genome Size (Bases) 3 billion 2.1 million 4. musculus) Mustard weed (A.000 13.000 3.6 million 9700 Estimated Genes 30. cerevisiae) Bacterium (E.000 19. melanogaster) Yeast (S.6 billion 100 million 97 million 137 million 12.000 6.000 30. coli) Human immunodeficiency virus (HIV) .000 25.200 9 Human (Homo sapiens) Laboratory mouse (M. elegans) Fruit fly (D. thaliana) Roundworm (C.

exact locations. Department of Energy Genome Programs.S. Genomics and Its Impact on Science and Society. distribution. and functions • Gene regulation • DNA sequence organization • Chromosomal structure and organization • Noncoding DNA types. 2003 .Future Challenges: What We Still Don’t Know • Gene number. 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. protein synthesis. and functions • Coordination of gene expression. genomics U. information content. amount.

Department of Energy Genome Programs.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.S. 2003 .

S. 2003 . 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.Anticipated Benefits of Genome Research-cont. Department of Energy Genome Programs. 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. Evolution. Genomics and Its Impact on Science and Society.

and food • match organ donors with recipients in transplant programs • authenticate consumables such as caviar and wine U. water.Anticipated Benefits of Genome Research-cont.S. Department of Energy Genome Programs. Genomics and Its Impact on Science and Society. soil. 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.

Genomics and Its Impact on Science and Society.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. 2003 .S. Department of Energy Genome Programs. custom drugs U.

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

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

Asia. • 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. 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.HapMap An NIH program to chart genetic variation • Begun in 2002.

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