Ch.14 - Jamestown School District
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Transcript Ch.14 - Jamestown School District
Unit 4 Genetics
Ch. 14 The Human Genome
Human Chromosomes
To analyze chromosomes, biologists
photograph cells in mitosis
They then cut out the chromosomes from
the photograph, & group them together in
pairs
Human Chromosomes
Karyotype - a picture of chromosomes
arranged in pairs
Human Chromosomes
Sex chromosomes - 2 of the 46
chromosomes, that determine an
individual’s sex
– Females: XX
– Males: XY
Autosomes - remaining 44 chromosomes
Human Traits
Pedigree - chart that shows the relationships
within a family
Human Traits
Remember that the phenotype of an
organism is determined by its genotype
Also, that environmental effects on gene
expression are not inherited, genes are
Human Genes
The human genome, our complete set of
genetic information, includes 10’s of 1000’s
of genes
The DNA sequences on these genes carry
information for specifying many
characteristics
Human Genes
Many genetic disorders are caused by
autosomal recessive alleles
Human Genes
However, some genetic disorders may be
caused by a dominant allele
Ex.) Dwarfism, Huntington’s Disease (loss of
muscle control, & mental function until death
occurs)
From Gene to Molecule
In cystic fibrosis, & sickle cell disease, a
small change in the DNA of a single gene
affects the structure of a protein, causing a
serious genetic disorder
From Gene to Molecule
Cystic fibrosis is caused by the deletion of 3
bases in the DNA of a single gene
– As a result, the body does not produce a protein
needed to transport chloride ions
– CF causes serious digestive & respiratory
problems
Cystic Fibrosis
From Gene to Molecule
Sickle cell disease is common in African
Americans
– It is characterized by the bent & twisted shape
of the red blood cells
– The cells get stuck in the capillaries, damaging
cells, tissues, & organs
– It causes physical weakness, & damage
to the brain, heart, & spleen (may be fatal)
Human Genes & Chromosomes
Genes located close together on the same
chromosome are linked, so they tend to be
inherited together
Linked genes may be separated, however,
during crossing-over
Sex-Linked Genes
Sex-linked genes - genes located on the sex
chromosomes
Males have 1 X chromosome,
therefore, all X-linked alleles are
expressed in males, even if they
are recessive
Sex-Linked Genes
Ex. of sex-linked disorders: colorblindness,
hemophilia, muscular dystrophy
Chromosomal Disorders
Nondisjunction - when homologous
chromosomes fail to separate during
meiosis
If it occurs, abnormal #’s of
chromosomes could find their
way into gametes, & a disorder of
chromosome #’s may result
Chromosomal Disorders
Down Syndrome results when there is an
error on chromosome 21
Human DNA Analysis
DNA Fingerprinting - (Gel Electrophoresis),
analyzes sections of DNA that vary from 1
individual to another
DNA Fingerprinting
The Human Genome Project
The Human Genome Project is an ongoing
effort to analyze the human DNA sequence
Biotechnology companies are rushing to find
genetic info. that may be used
in developing new drugs &
treatments for diseases
Gene Therapy
In gene therapy, an absent or faulty gene is
replaced by a normal, working gene
Viruses are often used because they can
enter cells so easily
Ethical Issues in Human
Genetics
The goal of biology is to gain a better
understanding of the nature of life
As our knowledge increases, so does our
ability to change the genetics of living
things, including humans
What will happen to the human species if we
design our bodies?