Unidad de gen tica humana
Download
1 / 72

Unidad de Genética Humana - PowerPoint PPT Presentation


  • 86 Views
  • Uploaded on

Unidad de Genética Humana. ADN (DNA) : Es el Material de Herencia de los Organismos. Es la molécula de ácido desoxirribonucleíco Estructura del DNA : Modelo propuesto por Watson, Crick y Wilkins. (1953). Consiste de una hélice doble de Nucleótidos. Fig. 16-1b, p. 348.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' Unidad de Genética Humana' - kareem-bryan


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
Unidad de gen tica humana
Unidad de Genética Humana

  • ADN (DNA) : Es el Material de Herencia de los Organismos.

  • Es la molécula de ácido desoxirribonucleíco

  • Estructura del DNA : Modelo propuesto por

    Watson, Crick y Wilkins. (1953).

  • Consiste de una hélice doble de Nucleótidos.




Composici n del dna
Composición del DNA

  • Composición del Nucleótido:

    • Azúcar desoxiribosa

    • 4 Bases Nitrogenadas:

      • Purinas: Adenina (A) y Guanina (G)

      • Pirimidinas: Citosina (C) y Timina (T)

    • Gruposfosfatos ( PO4)




Thymine

Nucleotide

Adenine

Cytosine

Phosphate group

Guanine

Phosphodiester linkage

Deoxyribose (sugar)

Fig. 12-3, p. 264



Adenine

Thymine

Deoxyribose

Deoxyribose

Guanine

Cytosine

Deoxyribose

Deoxyribose

Fig. 12-6b, p. 267




Mutation

Fig. 12-9, p. 270


Exon

Intron

Exon

Exon

Intron

DNA in a eukaryotic chromosome

Transcription

Pre-mRNA

RNA processing (remove introns)

Mature mRNA

Formation of cDNA relies on RNA processing that occurs in the nucleus to yield mature mRNA.

Fig. 15-6a, p. 328


DNA

  • Representa el material de herencia

  • Está localizado dentro del núcleo en los cromosomas.

  • Tenemos 22 pares llamados autosomales 1-22

  • El #23 es el cromosoma sexual: XX y XY

  • En la molécula del DNA hay secuencias de genes

  • Los genes Codifican para proteínas.

  • DNA RNA mensajero proteínas


Relaci n de dna y prote nas
Relación de DNA y proteínas

  • El DNA se transcribe a m RNA = Transcripción

  • Si el mRNA se traduce a una proteína= Traducción


When genes go bad mutations diseases
When genes go bad: Mutations & diseases

  • http://www.thetech.org/genetics/art04_bad.php


M todos usados por los geneticistas para estudiar patrones de herencia
Métodosusadospor los geneticistasparaestudiarpatrones de Herencia.

  • Árbol genealógico

  • Cariotipos

  • Ánálisis bioquímico o Metabólico

  • Genética al Reverso ( Genética Molecular)


Rbol geneal gicos
Árbolgenealógicos

  • Pedigree: representación de los miembros de un tronco familiar a través de diferentes generaciones.

  • Véase símbolos y modelos



I

2

3

4

1

II

1

2

3

4

5

III

1

2

3

4

Key:

Mating

Normal female

Normal male

Siblings produced

by mating

Albino female

Albino male

Fig. 16-2, p. 349



Herencia
Herencia

  • Genes autosomales:

    • dominantes  AA, Aa

    • recesivos aa


Herencia ligada al sexo
Herencialigada al sexo

  • Al cromosoma XX

  • Al cromosoma XY


Estudio de cruces
Estudio de Cruces

  • Albinismo autosomal recesivo

  • Hungtinton autosomal dominante

  • Tay Sachs autosomal recesivo

  • Hemofilia ligado al sexo: cromosoma X gen recesivo

  • Daltonismo ligado al sexo gen recesivo


Grupos sangu neos alelos m ltiples
Grupossanguíneos: Alelosmúltiples

  • Grupo A

  • Grupo B

  • Grupo AB

  • Grupo O



Cariotipos
Cariotipos

  • Mapa de los cromosomas de un individuo.

  • En humanos, 46 cromosomas.

    • 23 los porta el gameto femenino (Óvulo)

    • 23 los porta el gameto masculino

      ( Espermatozoide)

    • Ambos gametos son haploides= poseen la ½ del total de cromosomas.


Anomal as cromos micas
AnomalíasCromosómicas

  • Delección: Cromosoma #5 Cri-du chat

  • Cromosomas extras): Cromosoma sexual X O en ..

    • Ejs.

      • hombres Klinefelter XXY

      • Síndrome de Down Trisomía en el par # 21


Otras anomal as
Otrasanomalías

  • Ausencia de un cromosoma : mujer Turner

    • XO Le falta un cromosoma sexual

  • Traslocación: fragmentos de un cromosoma se desprende y se inserta en otro grupo

    • Ej. Síndrome de Down






  • A reciprocal translocation occurs when two non-homologous chromosomes exchange segments.

    Fig. 16-5d, p. 355


    Fig. 16-3, p. 352 chromosomes exchange segments.


    Nondisjunction in first meiotic division chromosomes exchange segments.

    XY

    XY

    X

    Y

    First meiotic division nondisjunction results in two XY sperm and two sperm with neither an X nor a Y.

    Fig. 16-3a, p. 352


    Nondisjunction of Y in second meiotic division chromosomes exchange segments.

    Nondisjunction of X in second meiotic division

    Normal first meiotic division

    XX

    X

    X

    X

    Y

    Y

    YY

    Y

    Second meiotic division nondisjunction of the X chromosome results in one sperm with two X chromosomes, two with one Y each, and one with no sex chromosomes. Nondisjunction of the Y chromosome results in one sperm with two Y chromosomes, two with one X each, and one with no sex chromosome (box on right).

    Fig. 16-3b, p. 352


    An inversion is a chromosome segment with a reversed orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    Fig. 16-5b, p. 355


    Lost segment orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    A deletion is the loss of a chromosome segment. A deletion can occur at the tip (shown) or within the chromosome.

    Fig. 16-5c, p. 355


    1 μm orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    Fragile site

    CGG repeats (200 to more than 1000 times)

    CGG repeats (up to 50 times)

    Fig. 16-6, p. 356


    1 μm orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    Fragile site

    CGG repeats (200 to more than 1000 times)

    CGG repeats (up to 50 times)

    Fig. 16-6, p. 356


    Fig. 16-7, p. 357 orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    Fig. 16-9, p. 359 orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    Fig. 16-11, p. 361 orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    1 orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    About 20 mL of amniotic fluid containing cells sloughed off from fetus is removed through mother's abdomen.

    Ultrasound probe determines position of fetus

    16-week fetus

    Uterine wall

    Amniotic cavity

    Fluid is centrifuged.

    2

    Amniotic fluid is analyzed.

    3

    Fetal cells are checked to determine sex, and purified DNA is analyzed.

    4

    Placenta

    5

    Some

    cells are grown for 2 weeks in culture medium.

    6

    Karyotype is analyzed for sex chromosomes or any chromosome abnormality.

    7

    Cells are analyzed biochemically for presence of about 40 metabolic disorders.

    Fig. 16-11, p. 361


    Fig. 16-12, p. 362 orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    Transabdominal sampling technique orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    Withdrawn chorionic villi cells

    Cervical sampling technique

    Ultrasound probe

    Syringe

    Catheter

    Withdrawn chorionic villi cells

    or

    Chorionic villi

    Catheter

    Cells are cultured; biochemical tests and karyotyping are performed

    Fig. 16-12, p. 362


    An lisis metab licos o bioqu micos
    Análisis orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.metabólicos o bioquímicos

    • Heredados

    • adquiridos


    Des rdenes
    Desórdenes orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    • Tay Sachs: deficiencia de la enzima Hexosaminidasa A

    • Diabetes: deficiencia de insulina

    • Fenilcetonuria: bebés no pueden procesar la fenilalanina. Niveles elevados lesionan el cerebro y causan retraso mental y se diagnostican PKU+


    Otros trastornos
    Otros orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.trastornos

    • Amiloidosis: acumulación y depósito de proteínas anormales en órganos.

      • Deterioro de órganos


    Gen tica al reverso
    Genética orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement. al Reverso

    • A nivel molecular

    • Identifica genes en los cromosomas

    • Secuenciación del genoma..

      • conocer la secuencia de las millones de bases nitrogenadas en nuestro genoma


    The human genome project
    The Human Genome Project orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    • Findings

      • Human genome contains ~25,000 genes

      • New genes, including many disease-associated genes have been discovered

      • Has determined the nucleotide sequence of all the DNA in our entire set of genes, called the human genome

      • The genes comprise 2% of all the DNA


    Plasmids orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    Cutting DNA with a restriction enzyme orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    • Information flow from DNA to protein orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

      • Transcription

        • RNA molecule complementary to the template DNA strand synthesized

      • Translation

        • Polypeptide chain specified by messenger RNA (mRNA) is synthesized


    • Gene therapy orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

      • Normal allele is cloned

      • DNA introduced into certain body cells

      • One technical challenge is finding appropriate vector


    • Recombinant DNA methods orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

      • Restriction enzymes

        • Enzymes from bacteria

        • Used to cut DNA molecules in specific places

        • Enable researchers to cut DNA into manageable segments

      • Vector molecule carrier of DNA fragment into cell

      • Transformation: uptake of foreign DNA into cells


    Producing a orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.genomic or chromosome library


    Chain termination method of DNA sequencing orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.


    • DNA sequencing orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

      • Based on chain termination method

      • Yields information about

        • Structure of gene

        • Probable amino acid sequences of its encoded proteins


    • Applications of DNA technology orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

      • Gene therapy

      • Tissue engineering

      • DNA typing


    Gm plants and medicines
    GM Plants and Medicines orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    • Medically useful genes can be inserted into plants—example:

      • Plants could be engineered to produce human antibodies, conferring passive immunity to microbial infection merely by eating the plant


    Section 13 3 outline
    Section 13.3 Outline orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    • 13.3 Biotechnology in Forensics

      • How Biotechnology Revolutionized Forensics

      • Amplification of DNA by Polymerase Chain Reaction

      • Gel Electrophoresis: Separation of DNA Fragments

      • DNA Probes Are Used to Highlight Bands in a Gel

      • DNA Fingerprinting


    Section 13 6 outline
    Section 13.6 Outline orientation. An inversion does not change the amount of genetic material in the chromosome, only its arrangement.

    • 13.6 Biotechnology in Medicine

      • DNA Technology Can Be Used to Diagnose Inherited Disorders

      • Restriction Enzyme Fragment Analysis

      • Identification of Defective Alleles with DNA Probes

      • DNA Technology Can Be Used to Treat Disease


    ad