Cap 1-genética

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

Transcript of Cap 1-genética

GENÉTICA GENERAL

ESCUELA DE BIOQUÍMICA Y FARMACIA

Facilitador:Bq. F Ana Belén Córdova R

VARIACIÓN

HERENCIA

GENÉTICA

FAMILIARIZARNOS CON LA TERMINOLOGÍA Y LOS PRINCIPIOS EN GENÉTICA.

OBJETIVO de la clase:

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.

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Terminología

•Gen •Alelos•Locus (Loci)•Mutación•Genotipo•Genoma•Fenotipo

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• 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

Figure 1-8 Copyright © 2006 Pearson Prentice Hall, Inc.

Human nuclear DNA some 3 billion nucleotides 35,000 genes

• 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.

Figure 1-9 Copyright © 2006 Pearson Prentice Hall, Inc.

Flujo básico de la información genética

Barrido genético en una familia

CÓDIGO GENÉTICO

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

www.nlm.nih.gov

Anemia Falciforme

1.3 Genomics Grew Out of Recombinant DNA Technology

• Restriction enzymes have allowed the advent of recombinant DNA and cloning

• Clones• Vectores• Genoma• Biblioteca genómica

Figure 1-14 Copyright © 2006 Pearson Prentice Hall, Inc.

GENÓMICA

Arroz Golden

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.

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

• 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.

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

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.

• 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

Mus musculus

Copyright © 2006 Pearson Prentice Hall, Inc.

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.

“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)

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)