The Human

Genome
Chapter 14
Human Heredity
Human
chromosomes
Karyotype a
picture of
chromosomes
arranged in pairs
Human Heredity
Human Heredity
Human body
46 chromosomes
Haploid sperm cell
with 23
chromosomes
Haploid egg cell with
23 chromosomes
They form a diploid
zygote or fertilized
egg cell with 46
chromosomes
Human Heredity
Sex chromosomes
2 of the 46
chromosomes
Determine the sex
of that person
Females have X
and X or XX
chromosomes
Males have X and Y
or XY chromosomes
Human Heredity
Autosomes
(Autosomal
Chromosomes)
The other 44
chromosomes found
in all body cells
These are the
chromosomes
separate from the
sex cells
Typically numbered
on a karyotype
Human Heredity
Human traits
Pedigree chart
Shows the
relationship
within a family
Shows how traits
may be passed
through
generations
Human Heredity
Human genes
Blood group genes
Rh blood groups
Positive and
negative
Rh+ is dominant
ABO blood groups
IA, I B, and i
IA and I B are
codominant
Human Heredity
Recessive alleles
Genetic disorders
usually are not
discovered until seen
in the environment
Dominant alleles
Anyone having
carrying an allele will
have the disorder
Codominant alleles

Human Heredity
From gene to
molecule
Cystic fibrosis
Common in people
from northern Europe
Serious digestive and
breathing problems
Caused by the
deletion of just one
amino acid
Human Heredity
Sickle cell disease
Blood cells doughnut
or comma shaped
Heterozygous
people dont contract
malaria
Humans with all
sickle celled blood
can die
Why do so many
African Americans
have sickle celled
blood?
14-2 Human Chromosomes
Human genes and
chromosomes
One cell has 6
billion base pairs or
A,C,T,& G
46 Chromosomes
are found in every
diploid human cell

14-2 Human Chromosomes
Only 2% of all DNA
is used for genes or
transcribed into
RNA
Average genes are
3,000 base pairs
Largest gene is 2
million base pairs
14-2 Human Chromosomes
Chromosomes 21
and 22 are the
smallest
22 has 545 genes (43
million base pairs)
21 has 225 genes (21
million base pairs)
Lou Gehrigs Disease
or Amyotrophic
Lateral
Sclerosis(ALS)
14-2 Human Chromosomes
Sex-linked genes
genes located on the
sex chromosomes
Colorblindness
Red-green
colorblindness
1 in 10 males
1 in 100 females
Why do more males
have colorblindness?
14-2 Human Chromosomes
Hemophilia
Blood does not clot
properly
Is determined by
two genes on the
X-chromosome
1 in 10,000 males
Ryan White
14-2 Human Chromosomes
Duchenne
Muscular
Dystrophy
Progressive
weakening and loss
of skeletal muscle
1 in 3,000 males
Caused by a
defective gene that
codes for a protein in
muscles
14-2 Human Chromosomes
X-chromosome
inactivation
Barr body dense
area in a nucleus
where the inactivated
X chromosome is
located
Each cell controls
which X
chromosome is
turned off
Calico cat
14-2 Human Chromosomes
Chromosomal
Disorders
Nondisjunction
error in which
homologous
chromosomes fail
to separate
14-2 Human Chromosomes
Down syndrome
Caused by trisomy
or three copies of
chromosome
21(Trisomy 21)
1 in 800 babies
This is a
nondisjunction
condition
14-2 Human Chromosomes
Sex chromosome
disorders
Turners syndrome
Females (45,X)
Sterile
No sex organs
Klinefelters
syndrome
Males (47, XXY)
Sterile
14-3 Human Molecular
Genetics
Human DNA
analysis
Search the human
genome using
sequences of DNA
bases
14-3 Human Molecular
Genetics
Testing for alleles
Use labeled DNA
probes
Search for changes in
restriction enzymes
Test lengths of DNA
strands
14-3 Human Molecular
Genetics
DNA
fingerprinting
No two
humans are
exactly alike
Analyze and
compare low
function DNA
segments
14-3 Human Molecular
Genetics
The Human
Genome Project
An ongoing effort
to analyze the
human sequence
Finished in 2000
14-3 Human Molecular
Genetics
Rapid
sequencing
Identify separated
regions of DNA
Use these areas
as markers
Shotgun
sequencing
14-3 Human Molecular
Genetics
Searching for
genes
Find DNA
sequences
known to be
promoters
This is the
start of a
gene
14-3 Human Molecular
Genetics
A breakthrough for
everyone
Public access to
Human genome
project

14-3 Human Molecular
Genetics
Gene therapy
Changing the
gene that causes
a genetic disorder
Use viruses to
infect cells with
good gene
1999 - First
person cured of
genetic disorder
14-3 Human Molecular
Genetics
Ethical issues
in human
genetics
Should we use
genetics to
make people
better?