Unidad de gen tica humana
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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.

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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.


Unidad de gen tica humana

Fig. 16-1b, p. 348


Cromosomas

Cromosomas


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)


Unidad de gen tica humana

Table 12-1, p. 263


Unidad de gen tica humana

Fig. 12-3, p. 264


Unidad de gen tica humana

Thymine

Nucleotide

Adenine

Cytosine

Phosphate group

Guanine

Phosphodiester linkage

Deoxyribose (sugar)

Fig. 12-3, p. 264


Unidad de gen tica humana

Fig. 12-5, p. 266


Unidad de gen tica humana

Adenine

Thymine

Deoxyribose

Deoxyribose

Guanine

Cytosine

Deoxyribose

Deoxyribose

Fig. 12-6b, p. 267


Http www thetech org genetics zoomin index html

http://www.thetech.org/genetics/zoomIn/index.html


Unidad de gen tica humana

Fig. 12-9, p. 270


Unidad de gen tica humana

Mutation

Fig. 12-9, p. 270


Unidad de gen tica humana

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


Unidad de gen tica humana

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


Unidad de gen tica humana

Fig. 16-2, p. 349


Unidad de gen tica humana

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


Unidad de gen tica humana

p. 366


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


Unidad de gen tica humana

  • Genes dominantes: A y B

  • Genes Recesivos: 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


  • Unidad de gen tica humana

    Fig. 16-1, p. 348


    Unidad de gen tica humana

    Fig. 16-1a, p. 348


    Unidad de gen tica humana

    Fig. 16-1b, p. 348


    Unidad de gen tica humana

    Fig. 16-4, p. 353


    Unidad de gen tica humana

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

    Fig. 16-5d, p. 355


    Unidad de gen tica humana

    Fig. 16-3, p. 352


    Unidad de gen tica humana

    Nondisjunction in first meiotic division

    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


    Unidad de gen tica humana

    Nondisjunction of Y in second meiotic division

    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


    Unidad de gen tica humana

    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


    Unidad de gen tica humana

    Lost segment

    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


    Unidad de gen tica humana

    1 μm

    Fragile site

    CGG repeats (200 to more than 1000 times)

    CGG repeats (up to 50 times)

    Fig. 16-6, p. 356


    Unidad de gen tica humana

    1 μm

    Fragile site

    CGG repeats (200 to more than 1000 times)

    CGG repeats (up to 50 times)

    Fig. 16-6, p. 356


    Unidad de gen tica humana

    Fig. 16-7, p. 357


    Unidad de gen tica humana

    Fig. 16-9, p. 359


    Unidad de gen tica humana

    Fig. 16-11, p. 361


    Unidad de gen tica humana

    1

    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


    Unidad de gen tica humana

    Fig. 16-12, p. 362


    Unidad de gen tica humana

    Transabdominal sampling technique

    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

    Análisismetabólicos o bioquímicos

    • Heredados

    • adquiridos


    Des rdenes

    Desórdenes

    • 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

    Otrostrastornos

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

      • Deterioro de órganos


    Gen tica al reverso

    Genética 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

    • 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


    Unidad de gen tica humana

    Plasmids


    Unidad de gen tica humana

    Cutting DNA with a restriction enzyme


    Unidad de gen tica humana

    • Information flow from DNA to protein

      • Transcription

        • RNA molecule complementary to the template DNA strand synthesized

      • Translation

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


    Unidad de gen tica humana

    • Gene therapy

      • Normal allele is cloned

      • DNA introduced into certain body cells

      • One technical challenge is finding appropriate vector


    Unidad de gen tica humana

    • Recombinant DNA methods

      • 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


    Unidad de gen tica humana

    Producing a genomic or chromosome library


    Unidad de gen tica humana

    Chain termination method of DNA sequencing


    Unidad de gen tica humana

    • DNA sequencing

      • Based on chain termination method

      • Yields information about

        • Structure of gene

        • Probable amino acid sequences of its encoded proteins


    Unidad de gen tica humana

    • Applications of DNA technology

      • Gene therapy

      • Tissue engineering

      • DNA typing


    Gm plants and medicines

    GM Plants and Medicines

    • 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

    • 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

    • 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


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