Chapter Two:

Biological Foundations

By David Lewis, PhD

2.1 In the Beginning
 Genetics
Gregor Mendel (18221884)
studied dichotomous traits in
lines of pea plants.
He discovered that the plants
could pass on traits present in
their parents that they did not
show themselves.
In other words, the plants seemed to
have traits that were not being shown.
Mendels Experiments
 Genotype VS Phenotype
Mendels discovery became known
as the difference between genotype
and phenotype.
Genotype:
a persons hereditary makeup
Phenotype:
Physical, behavioral and
psychological features that
result from the interaction
between ones genes and the
environment.
Phenotype

EYES EYES EYES EYES

EYE EYE EYE EYE EYE EYE EYE EYE

S S S S S S S S
Phenotype

Outcome 1 Outcome 2 Outcome 3 Outcome 4

 Genes
Definition: a group of nucleotide
bases that provide a specific set
of biochemical instructions
All aspects of human physiology
and psychology is encoded into these
instructions.
Humans have about 20,500 different genes.
Are organized into 23 pairs of chromosomes
which contain alleles.
One set comes from the father
The other set comes from the mother
 Alleles
Definition: variations of a gene
Can be homozygous or heterozygous
Homozygous alleles: alleles in a pair of chromosomes
that are the same
Heterozygous alleles: alleles in a
pair of chromosomes that differ
When alleles are heterozygous
one will be dominant and the
other recessive.
Dominant: form of an allele whose
chemical instructions are followed
Recessive: form of an allele whose
instructions are ignored due to the
presence of a dominant allele. Darker features, and
Asian features, tend to
Phenotype

Hazel eye allele

will dominate the
blue eye allele
resulting in a 0.5
EYES EYES EYES EYES
probability of blue
eyes being
expressed.

EYE EYE EYE EYE EYE EYE EYE EYE

S S S S S S S S
Phenotype

Outcome 1 Outcome 2 Outcome 3 Outcome 4

Phenotype

Hazel eye allele

will dominate the
blue eye allele
resulting in a 0.0
EYES EYES EYES EYES
probability of blue
eyes being
expressed.

EYE EYE EYE EYE EYE EYE EYE EYE

S S S S S S S S
Phenotype

Outcome 1 Outcome 2 Outcome 3 Outcome 4

 Chromosomes
Definition: threadlike structures in the nuclei of
cells that contain genetic material
Most are autosomes:
The first 22 pairs
The 23rd chromosome is the sex chromosome:
Determine the sex of the child
Each chromosome consists of
one molecule of deoxyribo-
nucleic acid that is tightly
wrapped around itself.
The combined DNA of a single
human cell measures more than
2 meters in length!
 Deoxyribonucleic Acid
(DNA)
Definition: molecule composed of
four nucleotide bases that is the
biochemical basis of heredity.
Adenine (A)
Thymine (T)
Guanine (G)
Cytosine (C)
All living things use these same
four nucleotide bases for their DNA.
 Genetic Replication
As the two strands of
the original DNA
molecule unwind, the
nucleotide bases on
each strand attract
free-floating
complementary
bases.
Once the unwinding is
complete, two DNA
molecules, each
identical to the first*,
will have been
 Mutation
Genetic replication is messy.
Every single time
genetic code is
copied numerous
errors are made.
These mistakes are
often insignificant
and go unnoticed,
but sometimes the
mistake can actually
be helpful for survival. We call this evolution.
These naturally occurring mutations
occur more frequently as you get older.
i.e. genetic disorders
 Two Types of Genetic
Disorders
Inherited disorders that are life-threatening
often involve two recessive alleles, because if
they were dominant the individual would die
before passing on their genes (i.e. evolution).
E.g. sickle-cell disease, PKU
Huntingtons disease is an exception, it is
dominant, but only become life-threatening in
middle age (after most people have already
passed on their genes).
Abnormal chromosomes: extra, missing, or
damaged chromosomes that result in
abnormal development
E.g. Down syndrome, Turners syndrome,
Klinefelters syndrome
 Behavioral Genetics
Definition: The branch of genetics that
studies inheritance of behavioral and
psychological traits
Behavioral genetics is difficult to do,
because most traits are result of many
genes working together instead of only one
gene or allele pair
(i.e. polygenetic inheritance).
When phenotypes are the
result of the combined activity
of many separate genes.
 Cloning
Dizygotic twins
A.k.a. fraternal twins
The result of two eggs fertilized
by two sperm
Monozygotic twins
A.k.a. identical twins
twins from the union of one egg
and one sperm that splits in two
soon after conception
Genetically identical (i.e. clones)
Both kinds of twins tend to
share much of the same
experiences and environment.
 DNA is not Destiny
Your genes are predispositions.
The environment can trigger these
predispositions or entirely supersede them,
making it very difficult to determine how
important many genes are.
i.e. heritability coefficients: a measure of the
extent to which a trait or characteristic is
inherited
You DNA can also influence the kind of
environment to which a person is exposed
(i.e. niche picking), which will in turn
influence your genetic predispositions.
 Why Your Brother is So
Weird
Despite the fact that children are often raised in
the same house, environmental influences
typically make children within a family different
(i.e. nonshared environmental influences).
forces within a family that make siblings different
from one another
For example, though you and your brother share
your parents, you do not share each other. That
is to say, your brother has you as a sibling while
you have him. Additionally, though you both
have the same parents they likely treat you
differently.
2.2 From Conception to Birth
 Makin Babies
When a mommy and daddy love each
other very much they will produce a
zygote:
A fertilized egg (sperm and ovum combined)
This signifies the point of conception
and the beginning of prenatal
development:
the changes that turn
a fertilized egg into a
newborn human
 Prenatal Developmental
Periods
Zygotic Period (First 2 weeks):
A.k.a. germinal period
Zygote divides rapidly and implants
in the uterine wall
Embryonic Period (Next 6 Weeks):
Brain, spine, major organs, and
bodily structures begin to form
Fetal Period (Final 30 weeks):
Brain becomes more complex, body
structures are refined, size increases
and fat builds
 Prenatal Developmental Periods
Germin Embryonic Fetal
al
Zygotic Period Events (weeks 1-2)

After fertilization the zygote travels down the

fallopian tube and implants in the uterine wall
Implantation triggers hormonal changes to prevent
menstruation
Germ disc: cluster of cells in
the center of the zygote which
will develop into a baby
i.e. germinal stage
Other cells support development
of baby by forming the placenta:
Structure through which nutrients
and wastes are exchanged between https://www.youtube.co
mother and the developing child m/watch?v=UgT5rUQ9EmQ
Uterine Wall Implantation (1-2
weeks)
Events of the Period of the
Zygote
 Embryo
Definition: term given to the zygote once it is
completely embedded into the uterine wall
Ectoderm:
Outer layer of the embryo, which becomes the hair,
outer layer of the skin, and nervous system
Mesoderm:
Middle layer of the embryo,
which becomes the muscles,
bones, and circulatory system
Endoderm:
Inner layer of the embryo,
which becomes the lungs
and digestive system
Embryonic Period Events (Weeks 3-
8)
Body structures, internal organs, and the
three layers of the embryo develop
Amnion (a.k.a. amniotic sac) fills with
fluid
Umbilical cord is formed:
Structure containing veins and arteries that
connects the developing child to the placenta
Development is both cephalocaudal
(head first) and proximodistal (center
first).
i.e. brain and spinal cord develop first
Spinal Cord Development (3 weeks)
Heart Development (5 weeks)
Limb and Eye Development (8
weeks)
Fetal Size Chart
Fetal Period Events (Weeks 9+)

Week 9: differentiation of
the ovaries and testes
Week 12: circulatory system
begins to function
Week 16: movements felt by mother
Week 20: eyebrow, eyelashes, scalp hair,
vernix
A greasy substance that protects the fetuss skin
Weeks 22-28: age of viability*
Weeks 22+: senses active; baby can
remember voices, music, tastes * not really
 Abortion
Laws regarding abortion
generally are based on the
age of viability:
The age at which a fetus can
survive outside the womb
because most of its bodily
systems function adequately.
This has traditionally been between 22-28 weeks,
however as medical technology advances
younger and younger fetuses have become
viable.
If the laws regarding abortion are not changed,
abortion will become illegal as all fetuses are likely to
become viable regardless of age.
 Eugenics
Definition: the effort to improve the
human species by letting only
people whose traits are valued by a
society to mate and pass along their
genes.
E.g. Those kinds of people shouldnt
be allowed to have children https://www.youtube.co
m/watch?v=1HOcbkSiKUc
Question: How is this different
from in vitro fertilization?
Process by which sperm and egg are
mixed in a petri dish to create a zygote,
which is then implanted into a womans
uterus
2.3 Influences on Prenatal Development
 General Risk Factors:
Nutrition
The mother is the sole source of nutrition for
the developing baby.
Most pregnant women need to increase their
caloric intake by about 10-20%.
Mothers generally gain
between 25 and 35 pounds.
Underweight gain about 40
Overweight gain only 15
Failure to consume adequate
amounts of folic acid can
result in spina bifida:
disorder in which the embryos
neural tube does not close
 General Risk Factors:
Stress
Definition: physical and psychological responses
to threatening or challenging conditions.
Mothers who experience prolonged periods of
high stress tend to have children who are:
Born earlier
Have a lower birth weight
More likely to have attentional and
behavioral problems in school
Physically, cognitively, and linguistically
underdeveloped
Prenatal hormonal theory of sexuality:
Sexual orientation is based at least in part
on hormones experienced in the womb.
 General Risk Factors:
Mothers Age
The optimal age to become pregnant seems
to be between 20 and 35 years of age.
Older mothers generally:
Have more difficulty getting pregnant
Are less likely to have a successful
pregnancy
Have increased risk for developmental
disorders (i.e. Down syndome)
Younger mothers are more likely to
live in poverty; lacking nutrition and
experiencing higher stress levels.
Teratogens: Diseases, Drugs, and
Environmental Hazards
Definition: an agent that causes
abnormal prenatal development
Kinds of teratogens
Drugs
Fetal alcohol syndrome; neonatal abstinence
syndrome
Diseases
AIDS, cytomegalovirus, genital herpes,
rubella (German measles), syphilis
Environmental hazards
Lead, mercury, PCBs, X-rays, and cell phones
 Teratogen Effects: Drugs
DRUG DEVELOPMENTAL EFFECTS
Alcohol cognitive, heart, & growth deficits
intelligence, attention, & motor skill
Aspirin
deficits
Caffeine lower birth weight & muscle tone
Cocaine growth deficits, increased irritability
Heroin growth deficits, increased irritability
Marijuan lower birth weight, motor control
a deficits
Nicotin growth deficits, cognitive
e problems
Fetal Alcohol Syndrome (FAS)
Definition: disorder affecting babies
whose mothers consumed large
amounts of alcohol while they were
pregnant
Infants born with FAS have:
lower birth weight
smaller head
body defects
facial malformations
emotional, behavioral, &
mental handicaps
 Neonatal Abstinence Syndrome
(NAS)
Newborns can be born addicted to a drug if
the mother uses it within the final weeks of
pregnancy.
Often caused by opiates (heroin, oxycodone) but
can be caused by other drugs as well
(methamphetamines).
Drug addicted babies will begin to suffer
with-drawals after birth, as the mother is
no longer providing them with the
drug through the placenta.
Long-term developmental effects
can also occur.
 Teratogen Effects: Diseases
DEVELOPMENTAL
DISEASE
EFFECTS
frequent infections, neurological disorders,
AIDS death
premature birth, lower birth weight, eye
Chlamydia inflammation
miscarriage, developmental delays, mental
Chicken pox retardation
Cytomegalov deafness, blindness, microcephaly, mental
irus retardation

Genital encephalitis, enlarged spleen, improper

Herpes blood clotting
mental retardation, damaged sensory
Rubella
 Autoimmune Deficiency Syndrome
(AIDS)
There are three ways a child can become
infected with the human immunodeficiency
virus (HIV) .
1. Prenatally through the placenta.
2. During birth by coming into contact with the
mothers blood.
3. After birth during breastfeeding.
Though more prone to all kinds of
disease, children with HIV usually
reach adolescence.
There are medications to prevent and
treat health problems related to the
disease, but still no cure.
 Teratogen Effects: Environments
ENVIRONM DEVELOPMENTAL
ENT EFFECTS
lower birth weight, premature
Air Pollution
birth, lower test scores
Lead mental retardation
growth delays, mental
Mercury
retardation, cerebral palsy
Polychlorinate
memory & verbal skill
d biphenyls
impairment
(PCBs)
growth delays, leukemia,
X-Rays
 Lead
It has been clearly established that childhood
exposure to lead can cause developmental
and behavioral problems, but relatively few
studies have focused on prenatal exposure.
During the first trimester
lead exposure can cause
intellectual deficits.
Exposure in later trimesters
does not seem to have as
much of an effect.

https://www.youtube.c
om/watch?v=aZOIoz8ZYe
 Cell Phones (?)
Cell phone usage has been associated with
increased health risks in adults.
Cell-phone radio-frequency appears to be a
causal factor for diseases like cancer.
However, whether similar affects
can occur prenatally has not yet
been determined.
The only obvious health
risk associated with cell-
phone usage is car-accidents,
which can kill the fetus, even
if mother is mostly unharmed.
 How Teratogens Influence
Prenatal Development
The effect of the teratogen depends upon the
genotype of the organism
A harmful substance for human development may not affect
other animals (e.g. cat residue).
The impact of teratogens changes over the course of
prenatal development
What could be fatal in the first trimester, is benign in the
second and third.
Each teratogen affects a specific aspect of prenatal
development
E.g. eye development; motor coordination; intelligence
The impact of teratogens depends on the dosage
Small amounts of alcohol will usually not produce FAS.
Damage from teratogens is not always evident at birth
 Prenatal Diagnosis and
Treatment
Genetic counseling, or speaking with a counselor
about family medical history, can helps to assess
the chances of inherited disorder (e.g.
depression).
Problems can also be predicted
using medical techniques:
Ultrasound: using sound waves to
generate an image of the fetus
Amniocentesis: using a syringe to
withdraw amniotic fluid through
the mothers abdomen
Chorionic villus sampling: taking a
sample of tissue from the placentahttps://www.youtube.com
/watch?v=TaSSS4Fsi5o
 Fetal Medicine
Definition: field of medicine concerned
with treating prenatal problems before
birth
Administering drugs or hormones
Has been used to treat things like
fetal hypothyroidism
Fetal surgery
Has been used to treat problems like
spina bifida and circulatory problems
Genetic engineering
replacing defective genes with
https://www.youtube.co
synthetic normal genes m/watch?v=Q-rZcOnK6YE
2.4 Labor and Delivery
 Stages of Labor
Stage 1 (12-24 hours before birth)
Contractions become increasingly
stronger and more rhythmic
Cervix enlarges to ~10 centimeters
Stage 2 (<1 hour before birth)
Baby passes through cervix to vagina
Babys head appears (crowning)
Stage 3 (minutes after birth)
Placenta is expelled
The Stages of Labor: Stage
1
The Stages of Labor: Stage
2
The Stages of Labor: Stage
3
 Approaches to Childbirth
In the past childbirth was considered a form
of surgical procedure.
Various tools and drugs were
commonly used, but the most
common was the forceps
Nowadays it is becoming
more popular to have
natural childbirth.
Very few tools, techniques or
medications are used
Expectant mothers attend
childbirth classes to practice
muscle/breathing techniques
Adjustment to Parenthood
Becoming a parent is a huge adjustment.
We dont get to do nice things anymore like
sleep.
1-2 weeks after birth 50% of new mothers
experience irritation, resentment, and crying,
reflecting stress and physiological changes
Months after birth 10-15% of new mothers
experience postpartum depression
Low self-worth, irritability, disturbed sleep, poor
appetite, apathy
Risk factors: high hormonal
levels; pre-pregnancy
depression, stress, no support
Breast-feeding reduces risk
 Birth Complications
Many complications can result in
hypoxia:
the umbilical cord blood flow is
disrupted and the infant does not
receive adequate oxygen
Many complications can be
addressed by performing a
Cesarean section (C-section):
surgical removal of an infant
https://www.youtube.com/wa
from the uterus through antch?v=_nmViG54n3w
WARNING GRAPHIC CONTENT
 Common Birth
Complications
Complicat Features
ion
Cephalopelvi The infants head is larger than the pelvis,
c making it impossible for the baby to pass
disproportion through the birth canal
In shoulder presentation, the baby is lying
Irregular crosswise in the uterus and the shoulder
position appears first; in breech presentation, the
buttocks appear first
A pregnant woman has high blood pressure,
Preeclampsia protein in her urine, and swelling in her
extremities (due to fluid retention)
Prolapsed The umbilical cord precedes the baby
umbilical through the birth canal and is squeezed
 Premature Birth
A birth is considered premature (preterm) if
it is before the 36th week of pregnancy.
Premature babies typically have low birth
weight:
Less than 5.5 pounds = low birth weight Low
Less than 3.3 pounds = very low birth weight
Survival
Rate
Below 2.2 pounds = extremely low birth weight
While they will have difficulties
initially, most premature babies
will develop normal after the
first couple years.
 Infant Mortality
Definition: the number of infants out of 1,000
births who die before their first birthday
U.S. mortality rate is just under 1%, or 7 of 1,000
15 industrialized nations have lower infant
mortality than U.S.
Japan, Sweden, Italy, France, Spain, Germany,
Netherlands, Ireland, Israel, Australia, United Kingdom,
New Zealand, and Canada
Possible factors include low birth weight
resulting from a lack of free or inexpensive
prenatal care and fewer paid leaves of
absence for childcare.
Thanks Obama wait nevermind.
Infant Mortality Rates