Introducción a la Genética Humana Moderna

Encuesta de evaluación TIB2017

Datos generales

Código: T2-IGH
Duración: 40 horas
Fecha: del 16 al 20 de Enero de 2017
Nivel: básico
Idioma: Español
Lugar: Aula 4 LCG

Lista de confirmados

Profesores

Dra. Alejandra Medina Rivera (LIIGH, UNAM, México)
Dra. Lucía Morales (LIIGH, UNAM, México)
Dra. María C. Ávila (LIIGH, UNAM, México)
Dra. Daniela Robles (LIIGH, UNAM, México)

Descripción

Taller introductorio a conceptos básicos de genética, y su aplicación en estudios en humano. Se revisarán conceptos básicos de la genética clásica, a la luz de metodologías y tecnologías modernas como la genómica.

Objetivo del curso

Que los participantes adquieran los conceptos básicos necesarios para entender estudios modernos de genética y genética de poblaciones.

Audiencia

Estudiantes y/o académicos interesados en aprender o revisar conceptos clásicos de genética, metodologías y conceptos de la genética moderna.

Requisitos

  • Conocimientos fundamentales de biología y biología celular
  • Conocimientos fundamentales de estadística y probabilidad
  • Una laptop personal, con un navegador web

Contenido

Mendelian Inheritance

Topics:

  • Human chromosomes and the human karyotype (comparison to other species’ karyotypes)
  • Overview of Mitosis, Meiosis, and the inheritance of the genome
  • Loci and alleles
  • Genotypes and phenotypes
  • Mendel’s laws
  • Uniparental markers
  • Mendelian diseases

Independent assortment of genes

Topics:

  • Mendel’s Law of Independent assortment
  • Working with independent assortment
  • The chromosomal basis of independent assortment
  • Polygenic inheritance
  • Inheritance independent of the nucleus

Mapping eukaryote chromosomes by recombination

Topics:

  • Diagnostics of linkage
  • Mapping by recombinant frequency
  • Mapping with molecular markers
  • Accounting for unseen multiple cross-overs
  • Using recombination-based maps in conjunction with physical maps
  • Molecular mechanisms of crossing over
  • Modern linkage and sequencing methods

Gene interaction

Topics:

  • Interactions between the alleles of a single gene: Complete dominance, recessiveness, incomplete dominance, codominance, recessive lethality
  • Interaction of genes in pathways
  • Inferring gene interactions
  • Penetrance and expressivity

DNA structure and replication

Topics:

  • DNA: the genetic material
  • DNA Structure
  • Semiconservative replication
  • DNA replication in eukaryotes
  • Telomere replication

Transcription

Topics:

  • RNA
  • Transcription
  • Transcription in eukaryotes
  • Intron removal and exon splicing
  • Small functional RNAs than regulate and protect the eukaryotic genome

Protein Synthesis

Topics:

  • Protein structure
  • The genetic code
  • tRNA: The adapter
  • Ribosomes
  • The proteome

Gene manipulation techniques

Topics:

  • Isolating and amplifying nucleic acids
  • Generating recombinant molecules, chromosome walking
  • Functional complementation, mutant rescue
  • Sequencing
  • From Northern, Southern and Western blot principles to Genomics
  • Genetic Engineering

Transposable Elements

Topics:

  • Discovery of transposable elements
  • Transposable elements in prokaryotes and eukaryotes
  • Prevalence of transposable elements
  • Regulation of transposable elements

RNA, transcriptional regulation

Topics:

  • Gene regulation
  • Negative, positive, and dual control
  • Attenuation
  • Bacterial Sigma factors
  • Regulatory proteins in eukaryots
  • Chromatin composition and regulation
  • Gene inactivation
  • Gene silencing
  • Gene regulation by small RNAs

Epigenomics

Topics:

  • Conformation of the epigenome
  • Experimental techniques to determine the epigenome
  • Importance of the epigenome: paper discussion

Mutation, repair and recombination

Topics:

  • Phenotypic consequences of DNA mutations
  • Molecular basis of spontaneous mutations
  • Molecular basis of induced mutations
  • Biological repair mechanisms
  • Cancer: An important consequence of mutation

Genetic variation

Topics:

  • Genetic variation and the phenotype
  • SNPs in the nuclear and mitochondrial genomes
  • Structural variation in the genome
  • Sequencing and genotyping human genetic variation
  • Databases of sequence variation
  • Basic concepts in population genetics: mutation, genetic drift, Hardy-Weinberg equilibrium, selection, and linkage disequilibrium.
  • The origin and geographic distribution of human genetic diversity

Complex traits

Topics:

  • Measuring quantitative variation
  • A simple genetic model for quantitative traits
  • Heritability
  • Mapping QTL in populations with known pedigrees
  • Association mapping in random-mating populations