Ch. 14 The Human Genome
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Transcript Ch. 14 The Human Genome
Ch. 14 The Human
Genome
Ch. 14 Outline
14-1: Human Heredity
Human Chromosomes
Human Traits
Human Genes
From Gene to Molecule
Ch. 14 Outline
14-2: Human Chromosomes
Human Genes and Chromosomes
Sex-linked Genes
X-Chromosome Inactivation
Chromosomal Disorders
14-3: Human Molecular Genetics
Human DNA Analysis
The Human Genome Project
Gene Therapy
Ethical Issues in Human Genetics
Human Chromosomes
Karyotypes:
A picture of chromosomes arranged by
homologous pairs
Humans have 23 pairs (46 total) chromosomes.
Two of the 46 chromosomes are called sex
chromosome because they determine and
individual’s sex.
In Human’s:
Female –
Male –
Human Chromsomes
Autosomes: the remaining 44
chromosomes. They do not determine
the sex of the organism.
All Human egg cells carry a single X
chromosome.
Half of all sperm cells carry an X
chromosome and half carry the Y.
This is why the ratio of males to
females is 50/50.
Human Traits
Scientists use a pedigree chart to help
study how a trait is passed from one
generation to the next.
Pedigree: chart that shows the
relationships within a family.
How to read a pedigree
A circle represents
a female.
A horizontal line connecting
a male and female
represents a marriage.
A half-shaded circle
or square indicates
that a person is a
carrier of the trait.
A completely
shaded circle or
square indicates
that a person
expresses the
trait.
A square represents
a male.
A vertical line and a
bracket connect the
parents to their children.
A circle or square
that is not shaded
indicates that a
person neither
expresses the trait
nor is a carrier of
the trait.
Pedigrees
These Charts are used to infer the
genotypes of family members. They can
reveal if traits are sex-linked, dominant
or recessive.
Human Genes
Blood Group Genes
Knowing a person’s blood group is
important during transfusions.
Two blood groups:
Rh
groups
ABO groups
The Rh Blood Group
The Rh blood group is determined by a
single gene with two alleles: Positive
and negative
Rh+ is dominant to Rh-
The Rh factor is named after the Rhesus
Monkey where the factor was first
isolated
Very important for females to know
during pregnancies.
ABO Blood Groups
There are three alleles for the ABO
Blood Group:
IA , I B ,
I
“i” is the recessive allele. ii type O
blood
IAIB are codominant type AB blood
IAIA or IAi type A Blood
IBIB or IBi type B Blood
ABO Blood Groups
Phenotype
(Blood Type
Genotype
Antigen on
Red Blood Cell
Safe Transfusions
To
From
Antigens and Blood
Disorders in Humans
Genetic Disorders may be caused by:
Recessive Alleles
Ex.
CF, PKU, Tay-Sachs
Dominant Alleles
Huntington’s
Disease
Codominant Alleles
Sickle
Cell Anemia
Concept Map
Autosomol
Disorders
caused by
Recessive
alleles
Dominant alleles
Codominant
alleles
include
include
include
Huntington’s
disease
Sickle cell
disease
Galactosemia
Albinism
Cystic
fibrosis
Phenylketonuria
Tay-Sachs
disease
Achondroplasia
Hypercholesterolemia
Sex-Linked Genes
Sex-linked genes: Genes Located on
the sex chromosomes
Many genes are located on the X
chromosome
Sex-linked disorders are caused by
genes on the X or Y chromosome
Colorblindness, Hemophilia
X-Chromosome Inactivation
Females have two X chromosomes but
males only have one. How do females
cells “adjust” to having an extra X if
males can survive with just one?
One of the X chromosomes in female cells
are randomly switched off. Those are
called Barr bodies.
Chromosomal Disorders
Nondisjunction: failure of
chromosomes to separate correctly in
meiosis
This leads to an abnormal number of
chromosomes in gametes
Ex:
Down Syndrome (3 copies of
chromosome 21 “trisomy”)
Nondisjunction
Homologous
chromosomes
fail to separate
Meiosis I:
Nondisjunction
Meiosis II
The Human Genome Project
A research project to sequence (identify
in order) all the bases in Human DNA
~3.2 BILLION pairs!
Some discoveries:
A large amount of DNA does not code for
proteins
Humans only have 30,000-40,000 genes
(scientists expected 100,000)
The Human Genome Project
Website
http://www.genome.gov/
Really interesting Information about the
Human Genome Project. It might help
you understand stuff better.
EDUCATE YOURSELF!
Gene Therapy
Information about the human genome
might be used to cure genetic disorders
though the use of gene therapy.
Gene therapy: the process of changing
a gene that causes a genetic disorder
It replaces the faulty gene with a normal,
working gene
Ethical Issues
If Human cells can be manipulated to
cure disease, should biologists try to
engineer people with specific traits?
What will happen to the human species if
we design our own bodies?
Should we clone humans?