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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.
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)
slide7

Thymine

Nucleotide

Adenine

Cytosine

Phosphate group

Guanine

Phosphodiester linkage

Deoxyribose (sugar)

Fig. 12-3, p. 264

slide9

Adenine

Thymine

Deoxyribose

Deoxyribose

Guanine

Cytosine

Deoxyribose

Deoxyribose

Fig. 12-6b, p. 267

slide12

Mutation

Fig. 12-9, p. 270

slide13

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

slide14
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
slide20

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
slide26

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
slide34

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

Fig. 16-5d, p. 355

slide36

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

slide37

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

slide38

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

slide39

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

slide40

1 μm

Fragile site

CGG repeats (200 to more than 1000 times)

CGG repeats (up to 50 times)

Fig. 16-6, p. 356

slide41

1 μm

Fragile site

CGG repeats (200 to more than 1000 times)

CGG repeats (up to 50 times)

Fig. 16-6, p. 356

slide45

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

slide47

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

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
slide60
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
slide61
Gene therapy
    • Normal allele is cloned
    • DNA introduced into certain body cells
    • One technical challenge is finding appropriate vector
slide62
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
slide66
DNA sequencing
    • Based on chain termination method
    • Yields information about
      • Structure of gene
      • Probable amino acid sequences of its encoded proteins
slide67
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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