Human Genetics

Application of Mendelian
genetics to Human beings
 Genetic Diseases
 Autosomal
recessive
 Sex-linked
 Chromosomal
disorders
 Sickle Cell Anemia:
Autosomal recessive
 Blood of affected
individual has a reduced
capacity for delivering
oxygen to the tissues.
 Gene involved encodes
information for making
the hemoglobin molecule
 Hemoglobin is a protein
that carries oxygen
 Hemoglobin gives blood
the red color.
 RBC
 Normal= biconcave disk
 Travel through arteries,
veins, capillaries
 People with sickle
cell have normal cell shape
if there is enough oxygen.
 One nucleotide is
responsible for mutation.
 Sickle cell
 When oxygen levels are
low, even slightly lower than
normal, hemoglobin forms
long insoluble strands
 RBC’s become long and thin
like sickles
 Cells now cannot pass
through narrow passages,
clogging small capillaries
 Oxygen depletion (anemia),
pain and tissue death
 Two alleles for Sickle Cell
anemia:
HbA= normal hemoglobin
HbS= Sickle cell
 Can you guess the
homozygous for normal and
homozygous for sickle cell?
 Heterozygous for sickle cell
(carriers)= 1% demonstrate
sickling
 Carriers show no symptoms
of disease in normal
circumstances
 Avoid strenuous exercise &
high altitudes
 Who is a carrier?
 In the U.S. 1 out of 500 African Americans
are carriers of sickle cell.
 In Africa 1 out of 100 are carriers. Why?
 The answer is related to another
potentially fatal disease, malaria. Malaria
is characterized by chills and fever,
vomiting, and severe headaches.
 Anemia and death may result.
 Malaria is caused by a protozoan parasite
(Plasmodium) that is transmitted to
humans by the Anopheles mosquito.
 Sickle cell is an adaptation
 When malarial parasites invade the
bloodstream, the red cells that contain
defective hemoglobin become sickled and die,
trapping the parasites inside them and
reducing infection.
 Compared to AS heterozygotes, people with
the AA genotype (normal hemoglobin) have a
greater risk of dying from malaria. Death of AA
homozygotes results in removal of A alleles
from the gene pool. Individuals with the AS
genotype do not develop sickle cell anemia
and have less chance of contracting malaria.
They are able to survive and reproduce in
malaria-infected regions.
 Therefore, BOTH the A and S alleles of these
people remain in the population.
 Pedigrees
 Establish familial inheritance
patterns
 Cannot engineer crosses between
two people like in Mendelian
genetics
 What would happen if a woman
who is a carrier for sickle cell
anemia marries a man who is also
a carrier had children?
Pedigrees
 Circle=♀
 Square= ♂
 Horizontal
line=Marriage
 Vertical line=
children
 Bracket=siblings
 Shaded=person
expresses the trait
 Online resources
 What is sickle cell anemia?
 Teen Health
 Genetic disease
 Genetics Home Reference