Chapter 2

the collaborative gene

• Cell- nucleus-chromosomes(DNA)
• dna- Genetic information
• Genes- units of hereditary information,
short segments of DNA
• Human genome project- location of gene
and it's functions
 genome-wide association method
• DNA from disorder patients/ normal
patients
 Linkage analysis
• Genes involves in disease are located
near marker gene
 Next-generation sequencing
• increase in genetic data generated at a
reduced cost and in short time
• Human genome varies between individual
• thousand genome project (2008)- detailed
study of human genetic variation to date.
• 2001- 30,000 genes
• 2008, 2013- 20,500
• 2014- 20,000 protein producing gene
• dependent- gene
• no 1-1 correspondence between gene and
protein
• environment-hormones- genes
• increase in cortisol- fivefold increase in DNA
damage
• Methylation- genes turned on or off as a result of
exercise.
• tiny atom attach themselves to outside of gene.
process makes gene more or less capable to
receiving and responding to bio chemical signals
from body.
• Behavior of gene and structure unchanged
 Genes and chromosomes
• Mitosis- cell nucleus including
chromosome duplicates and the cell
divides.
• Meiosis- forms eggs and sperms
 Fertilization
• egg and sperm fuse to form zygote
 Sources of variability
• formation of sperm and egg-chromosome
exchanged, pair of chromosome
separated.
• Mutated gene- damaged gene because of
environment.
• even when genes are identical,people vary
• Susceptibility genes
• longevity genes- daf-16 turns on genes
related to stress resistance, immunity and
metabolism.
• FOXO3A
• Interventions to live longer
• DNA transcribed to RNA translated to
amino acids- proteins- phenotype
(environment)
 Genetic principles
• Dominant-recessive gene
• Can two brown-haired parents have a
blond-haired child?
 Sex linked genes
• mutated gene is on X-chromosome- X
linked inheritance
• males or females?
• Hemophilia and fragile X syndrome
 Genetic imprinting
• genes have differing effects depending on
whether they are inherited from mother or
father

• chemical process silences one member of

the gene pair
 Polygenic inheritance
• interaction of many different genes
gene gene interaction- immune system,
obesity, asthma, type 2 diabetes, cancer
 Chromosomal abnormalities
• Down syndrome- round face, flattened
skill, extra fold of skin over eyelids,
protruding tongue, short limbs, intellectual
and motor disabilities.
• Trisomy 21- not known
• health of sperm and ovum may be
involved
 Sex linked abnormalities
• Klinefelter's syndrome- male has extra X
chromosome
• XY-XXY
• Undeveloped testes, enlarged breasts,
become tall
• diagnosed after puberty
• hormone therapy
 Fragile X syndrome
• Abnormality in X and breaks
• males than females
• intellectual disability, autism and learning
disability
 XYY syndrome
• Males extra Y chromosome
• Leads to aggression and crimes but not
proved.
 Turner syndrome
• females
• X chromosome is missing
• XX-XO
• Short in stature and have a webbed neck
• infertile, difficulty in mathematics, verbal
ability is good.
 Gene-linked abnormalities
• Phenylketonuria
• cannot metabolize phenylalanine
• results from recessive gene
• Easily detected and modified through diet
• accumulates- intellectual disability and
hyperactivity
 Sickle cell anemia
• Genetic disorder- body's red blood cells
• RBC carry oxygen to body's cell [disk
shaped]
• Hook shaped- unable to carry oxygen
• Anemia, death
• Cystic fibrosis- Glandular dysfunction interferes
with mucus production, breathing and digestion
are hampered, short life span[physical, oxygen
therapy, synthetic enzymes, antibiotic]
• Diabetes- Body does not produce enough insulin
which causes abnormal metabolism of sugar
[Insulin treatment]
• Hemophilia- delayed blood clotting causes
internal and external bleeding [blood
transfusions/injections]
• Huntington's disease- CNS deteriorates
producing problems in muscle coordination and
mental deterioration
• Spina bifida- neural tube disorder that causes
brain and spine abnormalities. (corrective
surgery at birth, orthopedic device and physical
therap)
• Tay-Sachs Disease- Accumulation of lipids in
nervous system causing deceleration of mental
and physical development.(medication and
special diet but die at 5 years)
 Genetic counseling
• physicians and biologist, medical genetics
• information about problem, odds of
encountering them, strategies available
 Heredity and environment
interaction
• Behavior genetics- influence of heredity
and environment on individual differences
in human traits and development
• twin study or adoption studies
 heredity-environment correlations
• Passive genotype environment correlations-
biological parents provide rearing environment
common in infants and young children
• Evocative genotype-environment correlations-
child's genetically influenced characteristics elicit
certain types of environment
• Active (niche-picking) genotype-environment
correlations- children seek environment they find
compatible and stimulating
 Epigenetic view and gene X
environment interactions
• Development- ongoing, bidirectional
interchange between heredity and
environment
 Epigenetic view
•
Development – ongoing, bidirectional,
interchange between heredity and
environment
•
5HTTLPR + stressful environment= depression
•
G XE interaction study
•
Weakness:
 Conclusions
•
Moore biological system that generate
behavior are complex but they are described
in simpler terms. Genetic factor contribute to
behavior and psychological processes, they
don’t determine phenotype independently
from context in which they develop
 Prenatal development
•
Conception single sperm cell from a male
unites with an ovum (egg) in a female’s
Fallopian tube in a process scalled fertilization
 Germinal period
•
First two weeks after conception
•
Creation of fertilized egg, cell division, attachment of
zygote to uterine wall
•
Mitosis
•
One week- differentiation of cells
•
Inner mass of cell blastocyst embryo
•
Outer layer of cell- trophoblast- nutrition and support
•
10-14 days Implantation- attachment of zygote to
uterine wall
 Embryonic period
•
2-8 weeks
•
Rate of cell differentiation intensifies, support system for cells
form and organs appear
•
Blastocyst attach to uterine wall
•
Mass of cells - embryo
•
Endoderm- inner layer- respiratory and digestive systems
•
Ectoderm- outermost layer- nervous system, sensory
receptors
•
mesoderm- circulatory system, bones, muscles, excretory
system, reproductive system
•
organogenesis- process of organ formation during first two
months
• three layers- life support system develop
rapidly
• Amnion, umbilical cord- fertilized egg and
not from mother's body
• Placenta
• Amnion- bag or envelope, contains a clear fluid in which
embryo floats
• Amniotic fluid- temperature, humidity controlled, shock
proof
• Umbilical cord- two arteries and one vein, connects baby
to placenta
• Placenta- disk shaped group of tissues in which small
blood vessels from mother-and offspring intertwine but
do not join
• Oxygen, water, salt, nutrients from mother's blood
• Carbon-di oxide, digestive wastes from baby's blood
pass
• Any drug or chemical substance
• ethanol
• cortisol
• cigarette smoke weakens and increases
oxidative stress of fetal membranes from
which placenta develops
• Large molecules- RBC, bacteria, maternal
wastes and hormones
 fetal period
• 2 months til birth
• Fourth month- mother can feel arm and
leg movements
• End of fifth month- active, shows
preference for particular position in womb
• End of 6th month- grasping reflex,
irregular-breathing, viable- need help in
breathing, lungs not mature
• 3 trimesters
• Germinal and embryonic stage- 1st
trimester
• Fetal- 2, 3rd trimester
 The brain
• 100 billion neurons
• prenatal development- neurons move to
specific locations and start to become
connected.
• 1,2 Trimesters- architecture of brain is
assembled.
• 3rd trimester, 1, 2, yrs of postnatal life-
connectivity and functioning of neurons.
 phases of brain development
• Neural tube
• neurogenesis\
• neural migration
• neural connectivity
 neural tube
• nervous system- long, hollow tube located
on embryo's back.
• pear shaped neural tube - 21 days after
conception, develops from ectoderm.
• closes at top and bottom by 27 days after
conception
 birth defects
• anencephaly- head end of neural tube fails to
close.
• highest region of brain fail to develop, death
occurs in womb or after birth
• spina bifida- incomplete development of spinal
cord results in varying degrees of paralysis of
lower limbs. needs crutches, braces or wheel
chair
• Vitamin B folic acid
• Risk: maternal diet, obesity, maternal stress
 Neurogenesis
• Neural tube closed- massive proliferation
of new immature neurons - 5th prenatal
week
• Generation of new neurons-
neurogenesis- end of 5th month
 Neural migration
• cells move to appropriate locations
creating different levels, structures and
regions of brain
• Mature and develop more complex
structure
 Neural connectivity
• 23rd prenatal week, connections between
neurons begin to form and continues
postnatally
 Prenatal Diagnostic tests
• Ultra sound sonography
• Fetal MRI
• Chorionic villus Sampling
• Amniocentesis
• Maternal blood screening
 Ultrasound sonography
• 7 weeks into pregnancy
• non-invasive prenatal medical procedure in which high-frequency
sound waves are directed into the pregnant women's abdomen
• Echo from sound is transformed into a visual representation of
fetus's inner structure.
• Can detect:
• microencephaly- form of intellectual disability involving abnormally
small brain.
• give clues to baby's sex
• indicate whether there is more than one fetus
• spina bifida
No risk to women or fetus
results available as image read by radiologist
 Fetal MRI
• MRI- uses powerful magnet and radio waves to
generate detailed image of body's organs and
structures.
• Ultra sound is first line, indicate abnormality
• MRI provide more detailed image
• Assessing CNS abno0rmalities in 3rd trimester
• No good results in first trimester because of
small fetal structure and movement artifacts.
 Chorionic villus sampling

• Prenatal medical procedure- tiny

tissue sample from the placenta is
removed and analyzed.
Detect genetic defects and
chromosome abnormalities
• results available in 10 days
 Amniocentesis
• 15th and 18th week of pregnancy
• sample of amniot9ic fluid is withdrawn by
syringe and tested for chromosome or
metabolic disorders
• latter done- better diagnostic potential
• earlier done- how to handle pregnancy
when fetus has disorder
• Result after 2 weeks for cells to grow
• Small risk of miscarriage
 maternal blood screening
• 16th to 18th week
• Identifies pregnancies that has elevated
risk for birth defects- spina bifida, down
syndrome, congenital heart disease risk
for infant
• triple screen test- measures three
substances
• Abnormal triple screen test- ultrasound-
amniocentesis
 Fetal sex determination
• Chorionic villus sampling- 11-13 weeks of
gestation
• Baby's sex- 7 weeks in pregnancy
• Ethical concerns
 Hazards to prenatal development
• general principle- teratogen- agent causes
birth defect or negatively alter cognitive
and behavioral outcomes
• drugs, incompatible blood types,
environmental pollutants, infections
diseases, nutritional deficiencies, maternal
stress, advanced maternal and paternal
age, environment pollutants
• Dose
• Genetic susceptibility
• Time of exposure- embryonic period is
vulnerable
• After organogenesis- less anatomical
defects
• Fetal period- stunt growth, problems in
organ function
 Prescription and nonprescription
drugs
• Antibiotics- Streptomycin, tetracycline
• Antidepressants- Progestin, synthetic
estrogen, isotretinoin
• Diet pills, high doses of aspirin
 Psychoactive drugs
• Drugs that act on nervous system to alter
states of consciousness, modify
perception and change moods
• Caffeine, alcohol, nicotine, cocaine,
marijuana
 Caffeine
• Drinking coffee, tea or cola, chocolate
• Lower birth weight
• babies born small for gestational age
• Not to consume or consume sparingly
 Alcohol
• Fetal Alcohol spectrum disorders
• Facial deformities, defective limbs, face and
heart
• Learning problems
• Below average intelligence, intellectual disability
• lower level of executive function
• externalized and internalized behavior problem
• 34 years
• Even 1-2 servings of beer or wine
 Nicotine
• Preterm birth
• low birth weight
• fetal and neonatal deaths
• Respiratory problems
• Sudden infant death syndrome
• Cardiovascular problems.
• Maternal cigarette smoking- offspring cigarette smoking at 16 years
• Asthma, wheezing
Tobacco- low birth weight
Immune functioning- gene deregulations
Still birth
E-cigarettes
 Cocaine
• Reduced birth weight, length and head circumference
• Impaired connectivity of thalamus, pre frontal cortex,
lower arousal. less effective self regulation, higher
excitability, lower quality of reflexes, self regulation
problems, impaired motor development, slow rate of
growth, elevated blood pressure, impaired language
development and information processing, ADHD, special
ed, increased externalizing problems, PTSD
• Other factors
• Neurological, medical and cognitive deficits
 Marijuana
• low birth weight, NICU
• lowe intelligence
• Low levels of attention, memory, impulse
control
• 14 years marijuana use
 Maternal diseases
• Rubella- cardia defects, pulmonary problems.
microencephaly
• blood test
• Syphilis-CNS, gastrointestinal tract, Penicillin
• Genital herpes- birth canal delivery- C section
• HIV/AIDS- through placenta, contact of maternal
blood or fluids during delivery, breast feeding.
• Can be infected, symptomatic
• Infected and non-symptomatic- develop up-to 15
months of age
• Not infected
 Maternal diet and nutrition
• Maternal obesity
• Floc acid, B complex vitamin- Orange
juice, spinach
 Emotional states and stress
• unhealthy behavior
• internalizing problems in adolescence
• Low levels of self regulation
• Very low birth weight infant
• Preterm birth and low birth weight
• Antidepressants-0 risk of miscarriage,
Autism
 Maternal age
• Adolescents- infant high mortality, les
prenatal assistance from clinics
• 40 years- down's syndrome, feta;l death
 Environmental hazards
• Radiation, toxic waste
• Chemical pollutants
• X ray
protect by lead apron
 Paternal factors
• Lead, radiation, pesticides,
petrochemicals- abnormalities in sperm
• father smoking-miscarriage
• 40 years- spontaneousness abortion,
autism, schizophrenia
• Reducing stress and depression level
 Prenatal care
• Defined schedule visits
• Comprehensive educational, social and
nutritional services
• Info about pregnancy, labor, delivery and
caring for new born- first time mothers
• centering pregnancy- 90 min peer group
support sessions