Invitation to the Life Span

by Kathleen Stassen Berger

Chapter 2 Genes and Prenatal

Development

PowerPoint Slides developed by

Martin Wolfger and Michael James
Ivy Tech Community College-Bloomington
 The Beginning of Life
DNA (deoxyribonucleic acid):
Molecule that contains the chemical
instructions for cells to manufacture various
proteins
Promotes growth and sustains life
Chromosomes:
Molecules of DNA
DNA consists of 46 chromosomes arranged in
23 pairs
 The Beginning of Life
Gametes:
Reproductive cells (sperm and ova)
Each gamete consists of 23 chromosomes.
Zygote:
Two gametes (sperm and ovum) combine and produce a
new individual with 23 chromosomes from each parent.
Genes:
Specific sections of a chromosome that carry instructions
via four chemicals.
Chemicals are organized in four pairs (AT, TA, CG, GC).
Each person has about 3 billion pairs.
The Beginning of Life
 Genetic Variations and Similarities
Genes are passed down from
generation to generation
Genotype:
An organisms genetic
inheritance, or genetic potential
Unique for each organism
Phenotype:
The observable characteristics
of an organism, including
appearance, personality,
intelligence, and all other traits.
 Genetic Variations and Similarities
Many genes are identical for every human
being.
Some genes vary slightly in their codes from
one person to another.
Allele:
Variation of a gene or any of the possible forms in
which a gene for a particular trait can occur.
Effects of variations vary greatly from causing life-
threatening conditions to having no detectable effect
at all.
 The Human Genome
Genetic Diversity
Distinguishes each person
Allows the human species to adapt to pressures of
the environment (e.g. climate changes, illnesses).
Genome:
The full set of genes that are the instructions to make
an individual member of a certain species
Similarity between two people: 99.5%
Similarity between humans and chimpanzees: 98%
Similarity between humans and every other
mammal: 90+%
 Human Genome Project and
HapMap
Human Genome Project:
Found only about 20,000 genes in humans
Exact number is unknown
HapMap:
International project trying to spot all
variations in the human genome
Found 11 million variations among the 3
billion chemical pairs
 Siblings and Twins
Sibling Similarities
Each sibling gets abut 10,000 genes from each
parent.
Millions of variations and billions of combinations
are possible.
Full siblings are not necessarily alike.
Monozygotic (identical) twins:
Originate from one zygote that splits apart very
early in development.
Incomplete split results in conjoined twins.
Same genotype but slight variations in phenotype
are possible due to environmental influences.
 Siblings and Twins
Dizygotic (fraternal) twins
Result from fertilization of two separate ova by
two separate sperm.
Dizygotic twins have half their genes in
common and occur twice as often as
monozygotic twins.
Incidence is genetic and varies by ethnicity
and age.
 Male and Female
Humans usually possess 46
chromosomes.
44 autosomes and 2 sex chromosomes
Females: XX
Males: XY
Sex of offspring depends on whether the
fathers Y sperm or X sperm fertilizes the
ovum.
Male and Female
 Genetic Interactions
Almost every trait is:
polygenic (affected by many genes)
multifactorial (influenced by many factors)

Regulator genes
Direct the interactions of other genes,
controlling their genetic expression,
duplication, and transcription
Responsible for differences between species
 Additive Heredity
Additive genes
Genes that add something to some aspect of
the phenotype
Effects of additive genes add up to make the
phenotype
Example: Height is affected by the
contributions of about 100 genes
 Dominant-Recessive Heredity
Dominant gene is far more influential than the
recessive gene (non-additive).
Dominant gene can completely control the
phenotype with no noticeable effect of recessive
gene.
Genes for blood type B and Rh-positive blood are
dominant.
Effect of recessive genes can sometimes be
noticed.
Dominant brown eye gene and recessive blue eye
gene can result in hazel eyes.
 Carrier
A person whose genotype includes a gene
that is not expressed in the phenotype
Unexpressed gene occurs in half of the
carriers gametes and is passed on to half of
the carriers offspring
Offspring can be carrier or express the gene
in the phenotype (e.g. when unexpressed
gene is inherited by both parents)
 Heritability
Statistical term that indicates what portion
of the variation in a particular trait within a
particular population is inherited.
Example: 90% of the height differences
among children of the same age is genetic.
Environment can affect the expression of
inherited genes.
 Genetic Problems
a) Chromosomal Abnormalities

Down Syndrome (Trisomy-21)

Three copies of chromosome 21
Specific facial characteristics (thick
tongue, round face, slanted eyes)
Hearing losses, heart abnormalities,
muscle weakness, short stature
Slow to develop language
Accelerated aging (cataracts,
dementia, certain forms of cancer
common at age 40)
 Genetic Problems
b) Abnormalities of the Sex Chromosomes
Turner Syndrome (X only):
Unusually short, underdeveloped female organs,
infertile
Slow to develop
Problems in spatial understanding
Klinefelter Syndrome (XXY):
Symptoms include learning problems and infertility
Boys penis does not grow during puberty and fat
accumulates around the breast area
Sometimes not recognized until adulthood
 Genetic Problems
Gene Disorders
a) Dominant Disorders
Half of the offspring of parents with a dominant
disorder will have the disorder.
Most dominant disorders begin in adulthood (fatal
dominant childhood conditions cannot be passed on).
Many dominant disorders have relatively mild or
variable symptoms.
Tourette syndrome
Some who inherit the dominant gene exhibit uncontrollable tics
and explosive outbursts
Most have milder, barely noticeable symptoms
 Genetic Problems
b) Recessive Disorders
Millions of different types, lethal conditions are
rare
Sickle-cell trait
Offers some protection against malaria
African carriers are more likely than non-carriers to
survive
Cystic fibrosis
More common among people with northern
European ancestors
Carriers may have been protected against cholera
Genetic Problems
 Sex-Linked Conditions
All X-linked conditions are more common in boys;
girls are likely to be protected by their second X
Fragile X Syndrome
Most common form of inherited mental retardation
Additional symptoms include muscle weakness, shyness, and
poor social skills
Hemophilia
Blood clotting is inhibited
Blood transfusions can save childrens lives
Color blindness
Most common sex-linked condition
Often passed on because it is not debilitating
Sex-Linked Conditions
 Advising Prospective Parents
Genetic Counseling
Consultation and testing by trained professionals
Enables prospective parents to learn about their
genetic heritage, including harmful conditions that
may be passed on to their offspring
Ethical Guidelines
Test results are kept confidential
Decisions regarding sterilization, adoption, abortion,
or carrying a pregnancy to term are made by the
clients
Advising Prospective Parents
 Presenting the Facts
Potential genetic counseling
issues
Prospective parents must base
some decisions on odds
Tests often reveal that more
tests are needed
False positives and false
negatives
True positives may cause
additional stress
 PKU: A Success Story
Phenylketonuria (PKU)
Recessive condition
Results in inability to metabolize
phenylalanine (amino acid found in many
foods)
Buildup of phenylalanine causes brain
damage, progressive mental retardation, and
other symptoms
Early testing and a special diet usually results
in normal development
 From Zygote to Newborn
Three main periods of prenatal development
1. Germinal Period (first two weeks after
conception): rapid cell division and beginning of
cell differentiation
2. Embryonic Period (3rd through 8th week): basic
forms of all body structures develop
3. Fetal Period (9th week until birth): fetus grows in
size and matures in functioning
 The Germinal Period
Zygote begins duplication and division within
hours of conception
Development of the placenta
Organ that surrounds the developing embryo and is
attached to the wall of the uterus
Sustains life via the umbilical chord (nourishes
organism and carries waste products away)
Implantation (about 10 days after conception)
Developing organism burrows into the placenta that
lines the uterus
Organism grows rapidly
Pregnancy can be detected due to new chemicals in
the mothers urine
The Germinal Period
The Germinal Period
 The Embryonic Period
Embryo
Developing human organism from about the 3rd
through the 8th week after conception
Begins when the primitive streak appears down the
middle of the cell mass
Primitive streak becomes the neural tube and later
forms the brain and spine of the CNS
Head takes shape
Eyes, ears, nose, and mouth form
Heart begins to pulsate
Extremities develop and webbed fingers and toes
separate
The Embryonic Period
 The Fetal Period
Fetus
Developing human organism from the
start of the 9th week after conception
until birth
Genitals form and sex hormones cause
differences in fetal brain organization
Cephalocaudal and proximodistal
growth
Heartbeat detectable via stethoscope
All body parts and systems complete
prenatal development
Cortex is not fully mature at birth (e.g.
prefrontal lobes)
Brain at birth is far bigger than any
other part of the baby
 The Fetal Period
Age of viability
Age at which a preterm
newborn may survive outside
the mothers uterus if medical
care is available
About 22 weeks after
conception
Brain is able to regulate basic
body functions (e.g.
breathing)
Chances of survival increase
with each day after the 22-
week mark
The Fetal Period
 Birth
Fetal brain signals the release of hormones to
trigger the females uterine muscles
Labor begins
Average duration for firstborn babies: 12 hours
Quicker labor for later-born babies
Apgar scale
Quick assessment of newborns heart rate, breathing,
muscle tone, color, and reflexes
Completed twice (1 minute and 5 minutes after birth)
Score of 0, 1, or 2 in each category
Desired score: 7 or above
Birth
 Traditional and Modern Birthing
Practices
Home births
Hospital births
Doula
Woman who helps with labor, delivery, breast-
feeding, and newborn care
May be related to lower rate of cesarean
sections
 Cesarean Section (C-Section)
Surgical birth
Fetus can be removed quickly
Rates and reasons for c-sections vary greatly
Lower rates in poorer countries (emergencies)
Higher rates in richer countries (planned for the
convenience of mother and/or obstetrician)
1/3 of births in the United States
Less trauma for the newborn but slower
recovery for the mother
Subsequent cesarean deliveries may be
necessary
 Medical Intervention
Infant mortality has decreased due to better
medical care
1900: 5%
Today: <1 in 200
Childbirth has become safer for mothers
Death rate in poorest nations: 1 in 20 women
Excessive medical care also has disadvantages
Increase in unnecessary c-sections is associated with
higher rate of low-birth weight babies
 Low Birthweight
Low birthweight (LBW)
Less than 2,500 grams (5 pounds) at birth
United States
Steady increase in LBW over the past 25 years
8% of newborns are seriously underweight
More susceptible to teratogens, higher birth risks, lower
survival rate
Very low birthweight (VLBW)
Under 1,500 grams (3 pounds, 5 ounces) at birth
Extremely low birthweight
Under 1,000 grams (2 pounds, 3 ounces) at birth
 Preterm or Slow Growing?
Preterm
Birth that occurs at 35 or fewer weeks after
conception
Usually associated with low birthweight
Small for gestational age (SGA)
Birthweight is significantly lower than
expected, given the time since conception
Suggests impairment throughout prenatal
development and serious problems
 Causes of Low Birthweight
Genetic factors
Maternal illness
Exhaustion
Infection
Malnutrition
Drug use
Multiple births
Mothers, Fathers, and a Good Start
The Fathers Role
Supportive father helps mother stay healthy
Father can decrease or increase mothers
stress (affects fetus)
Most fathers are helpful to their pregnant
wives
Two way street: Pregnant mothers should
support, involve, and encourage fathers
 The Importance of Close Contact
Birth complications can have lingering impact on
later life
Mothers and fathers should help with early
caregiving if newborn must stay in the hospital
Kangaroo care
Child-care technique in which the mother of a low-
birthweight infant holds the baby between her breasts
Allows baby to hear mothers heartbeat and feel her
body heat
Research confirms beneficial effects
 Postpartum Depression
Sadness and inadequacy felt by 8-15% of new
mothers in the days and weeks after giving birth
Symptoms range from baby blues to postpartum
psychosis
Depressed mothers find baby care burdensome
and may think about mistreating the infant
Paternal involvement can have beneficial effect
Some fathers are depressed themselves
Causes for Postpartum Depression vary
 Bonding
Parent-Infant Bond
The strong, loving connection that forms as
parents hold, examine, and feed the newborn
Early skin-to-skin contact is not essential
Cross-fostering in monkeys
Newborns are removed from their mothers and
raised by another female or male
Strong and beneficial relationship sometimes
develops
Nature, Nurture, and the Phenotype
Four general research conclusions
1. Genes affect every aspect of human behavior
2. Nongenetic influences begin at conception and
continue lifelong, sometimes altering genetic
instructions
3. Most environmental influences on children raised in the
same home are NOT shared, partly because parents
treat each child differently
4. Children , adolescents, and adults niche-pick,
choosing environments that are compatible with their
genetic inheritance
 Nearsightedness or Myopia
High (more severe) and low
(less severe) nearsightedness
Low nearsightedness runs in
families and is associated with
minor variations in the Pax6 gene
Environment also plays a role
Increase in nearsightedness among
East Asian schoolchildren
Increased schoolwork may have
caused nearsightedness in children
with a Pax6 allelle
 Alcoholism
Alcoholism probably has a genetic basis
Genes can cause an overpowering addictive pull in
some people
Environmental conditions can modify the genetic
effects
Nature and nurture must combine to create an
alcoholic
Fetal Alcohol Syndrome (FAS)
A cluster of birth defects that may occur in the child of
a woman who drinks alcohol while pregnant
Includes abnormal facial characteristics, slow physical
growth, and retarded mental development
 Prenatal Teratogens
Substances and conditions that can impair
prenatal development and result in birth defects
or even death
Not all teratogens can be avoided
Structural abnormalities are obvious at birth
Behavioral teratogens
Affect the childs developing brain
Can cause developmental retardation, hyperactivity,
and learning disabilities
Effects do not become evident for months or years
 Significant Factors
1. Genetic Vulnerability
Some zygotes carry genes that make them
vulnerable
Certain genes increase likelihood of cleft lip in
Japanese people
Some women do not metabolize folic acid well
Increases rates of neural-tube defects (e.g. spina
bifida)
Folic acid was added to many foods in the United
States and Canada and rates have decreased
 Significant Factors
2. Timing of Exposure
Critical period: time when a body part
develops
First two months for structural abnormalities
Often before woman knows she is pregnant
Time when most spontaneous abortions
occur
Sensitive period: time when teratogens can
interfere with recent growth
 Significant Factors
3. Amount of Exposure
Threshold effect: Certain teratogens are relatively
harmless until exposure reaches a certain level
Bisphenol A (BPA)
Chemical compound used to make clear plastic
Small doses are harmless but threshold for humans is
unknown
Pregnant mothers should avoid plastic containers and
dishware
Prescription drugs
Vitamin A
High doses can be harmful
 Resolving Uncertainties
Pregnancy does not have to be an
anxious time
Good prenatal care can
teach women what they can do to have
healthy babies
save lives
reassure parents that all is well