ESTUDIO DE LA GENÉTICA

1. GENÉTICA GENERAL
ESCUELA DE BIOQUÍMICA Y
FARMACIA
Facilitador:
Bq. F Ana Belén Córdova R

2. VARIACIÓN
HERENCIA
GENÉTICA

3. FAMILIARIZARNOS CON LA
TERMINOLOGÍA Y LOS PRINCIPIOS EN
GENÉTICA.
OBJETIVO de la clase:

5. 1.1 From Mendel to DNA in
Less Than a Century
• In mitosis, chromosomes are copied and
distributed so that the two resulting daughter
cells each receive a diploid set. In meiosis, the
gametes produced are haploid.
www.ilustraciondigital3d.com

6. Terminología
•Gen
•Alelos
•Locus (Loci)
•Mutación
•Genotipo
•Genoma
•Fenotipo
www.ilustraciondigital3d.com

7. • DNA is an antiparallel, double-stranded
helix made up of the nucleotides A, C, G,
and T. The sugar in its nucleotides is
deoxyribose. These nucleotides form A–T
and G–C base pairs across the helix

8. Figure 1-8 Copyright © 2006 Pearson Prentice Hall, Inc.
Human nuclear DNA  some 3 billion nucleotides  35,000 genes

9. • RNA is similar to DNA except that it
is usually single-stranded and has U in
place of T. In addition, the sugar in its
nucleotides is ribose instead of
deoxyribose.

10. Figure 1-9 Copyright © 2006 Pearson Prentice Hall, Inc.
Flujo básico de la
información genética

11. Barrido genético en una familia

12. CÓDIGO GENÉTICO
• Once a protein is made, its action or location
in a cell plays a role in producing a phenotype.

13. www.nlm.nih.gov
Anemia Falciforme

14. 1.3 Genomics Grew Out of
Recombinant DNA Technology
• Restriction enzymes have allowed
the advent of recombinant DNA and
cloning

15. • Clones
• Vectores
• Genoma
• Biblioteca genómica
Figure 1-14 Copyright © 2006 Pearson Prentice Hall, Inc.
GENÓMICA
Arroz Golden

16. 1.4 The Impact of Biotechnology
Is Growing
• Biotechnology has been used for the
genetic modification of crop plants for
increased herbicide, insect, and viral
resistance, as well as for nutritional
enhancement.

17. Table 1-1 Copyright © 2006 Pearson Prentice Hall, Inc.

18. Tomate FlavrSavr
• Primer alimento transgénico aprobado por
la FDA en 1994 - retirado 1997
Ejemplo de un producto de:
http://www.gm.rt.schule-bw.de/lehrer/schmid/gentechnik/tomate.html

19. • The molecular basis for hundreds of
genetic disorders is known. Gene therapy
and genetic testing are important parts of
medicine.
Copyright © 2006 Pearson Prentice Hall, Inc.

20. Figure 1-18 Copyright © 2006 Pearson Prentice Hall, Inc.

21. 1.5 Model Organisms Play
Important Roles in Genetics and
Biology
• Model organisms for genetic study
are easy to grow, have a short life
cycle, and produce many offspring.

22. • All life has a common origin, and
genes with similar functions in different
organisms are similar in structure and
DNA sequence.
• Recombinant DNA technology and
the ability to transfer genes across
species has made it possible to develop
models of human diseases

23. Mus musculus
Copyright © 2006 Pearson Prentice Hall, Inc.

25. 1.6 We Live in the "Age of
Genetics"
• Genetics is the core of biology and
the method of choice for understanding
the functions and malfunctions of a
biological system.

26. “No single cellular system has all
of its genes understood in terms
of their biological roles” (Gibson et al, 2010)
“DNA sequencing of a cellular genome
allows storage of the genetic instructions
for life as a digital file” (Gibson et al, 2010)

27. La publicación del genoma humano en el 2001
estimuló un interés por el genoma y atrajo la
atención de los genetistas a relacionarlo con
varias enfermedades. “Gen-enfermedad” (Rhodes1 y Vyse J,
2008)
Disease-associated genetic variants are carried by patients
from birth, and are therefore fundamental abnormalities
unaffected by the disease process itself. (Rhodes1 y Vyse J, 2008)

28. Páginas a consultar
• ¿Universidades
involucradas?
• Objetivos…
• Tiempo de trabajo.
• Número de personas
involucradas.
http://www.ukbiobank.ac.uk/about-
biobank-uk/
http://www.scientificamerican.com/arti
cle/patients-can-now-choose-not-to-
know-their-own-dna-
secrets/?&WT.mc_id=SA_HLTH_201
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