pgh
TRANSCRIPT
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1959 Severo Ochoa Arthur-KornbergLos mecanismos de la síntesis biológica de los
ácidos ribonucleico y desoxirribonucleico.
1962 James D. Watson Francis H. C.-Crick Maurice H. F. Wilkins
Estructura molecular de los ácidos nucléicos
1978 Werner Arber Hamilton O. Smith Daniel Nathans
Endonucleasas de restricción y su aplicación en la genética molecular
1980 Paul Berg Nóbel de QuímicaBioquímica de los ácidos nucleícos, en
particular el ADN recombinante
1980 Walter Gilbert Frederick Sanger Nobel de Química
Determinación de las secuencias de bases en los ácidos nucléicos.
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1983 Barbara McClintockDescubrimiento de los transposones
1993 Kary B. Mullis Nobel de QuímicaPCR
1993 Michael Smith Nobel de QuímicaMuta génesis dirigida mediante oligonucleótidos y su
desarrollo para estudios de proteínas
2002 Sydney Brenner-John E. Sulston H.-Robert Horvitz
Caenorhabditis elegans
2007 Mario Capecchi-Oliver Smithies Sir-Martin Evans
Células madre y manipulación genética en modelos animales
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Cromosoma 1
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90.000millones
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los ~100.000 genes 3.2 Mpb información en bases de datos
Herramientas para sec. y análisis
Tecnología al sector priv.
ELSI
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Secuenciación empleando cebadores fluorescentes
Secuencia ión utilizando terminadores fluorescentes
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Esquema general de la PCR.
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Termociclador: aparato en el que se efectúa la PCR
convencional.
Tubos de PCR que
albergan la mezcla en un
volumen total de 100 μL.
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Secuencia publicada Feb. 2001 2.910 Mpb
Tamaño total (2003) 3.200 Mpb
Genes 30.000
Información para proteínas ~2%
Similitud entre genomas humanos
99.9%(polimorfismos)
Secuencias repetidas GH no codifican proteínas “DNA
basura”
~42%
Secuencias repetidas 35%
Genes con procesamientoalternativo
40%
Genoma compartido con el chimpancé
98%
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Febrero de 2001
HumanGenome
SequencingConsortium
Celera Genomics
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Técnica: PCR, detección fluorescente de STR
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