Chapter 2: Conception, Heredity, & Prenatal Development

I.​ Heredity
A.​ Nature and Nurture
1.​ Constant interplay between nature (heredity) and nurture (the
environment)
2.​ All human features are
a)​ Polygenic: result of many genes
b)​ Multifactorial: result of many factors (both genetic and
environmental)
3.​ One’s genetic make-up sets up a range of possibilities that may come into
play depending on environment
4.​ Epigenetic framework: the environment can affect the expression of
genes just as genetic predispositions can affect potentials (ie.
environmental circumstances can trigger symptoms of a genetic disorder)
II.​ Environment Correlations
A.​ Environment correlations: the processes by which genetic factors contribute to
variations in environment
1.​ 3 different types of Genotype-environment correlation
a)​ Passive genotype-environment correlation: occurs when
children passively inherit genes and the environment a family
provided (ex. Athletically inclined)
b)​ Evocative genotype-environment correlation: refers to how the
social environment reacts to individuals based on inherited
characteristics (ex. Shy vs. outgoing)
c)​ Active genotype-environment correlation: when individuals
seek out environments that support genetic tendencies
2.​ Genotype-Environment Interactions: genetic susceptibility to the
environment (ex. Adoptive parenting practices)
B.​ Genes and Chromosomes
1.​ Nature: contributions of genetics to one’s development
2.​ Gene: basic building block, recipes for making proteins (influence
structure of cells), located on the chromosomes, ~ 20,500 genes for
humans [Human cells: normally 46 chromosomes (23 from ea. parent)]
Type of cell division Explanation Steps

Mitosis All cells are made [Link] make a

here (except sexual duplicate copy
reproductive) [Link] identical cells are
created

Meiosis Cells used in sexual [Link] of gene

reproduction between chromosomes
2. Chromosomes duplicate
[Link] cell division
[Link] cell division
 3.​ Autosomes: 22 pairs of chomosles that are similar lengths
4.​ Sex chromosomes: differ in length (pair 23)
a)​ XY: male
b)​ XX: female
C.​ Genotypes, Phenotypes, & patterns on Inheritance
1.​ Genotype: total sum of all the genes a person inherits
2.​ Phenotype: the features that are actually expressed
3.​ Homozygous: receive the same version of a gene from mother&father
4.​ Heterozygous: different version of the same gene from ea. Parent
a)​ Dominant: express themselves in the phenotype when paired with
a dif. Version of the gene (ex. dimples, curly hair, normal vision)
b)​ Recessive: express themselves only when paired with a similar
version gene (ex. nearsighted, red hair)
c)​ Incomplete dominance: dominant does not fully suppress
recessive
5.​ Geneticists: refer to dif. Versions of a gene as alleles
6.​ Polygenic: result of several genes
D.​ Genetic Disorders
1.​ Genetic disorders:
a)​ dominant gene-linked (ex. Tourette’s or Huntington’s)
b)​ Sex-linked: gene found on X or Y chromosome (color-blindness,
hemophilia, baldness)
2.​ Recessive disorders (homozygous): the individual inherits a gene
change from both parents (if only one=carrier)
Disorder Description Cases per Birth

Sickle cell disease (SCD) red blood cells are sickle shaped and 1 in 500 Black births
affect oxygen transport in blood 1 in 36,000 Hispanic births

Cystic fibrosis (CF) affects breathing and digestion due to 1 in 3500

mucus buildup in body (lungs+systems)

Phenylketonuria (PKU) metabolic disorder [cannot metabolize 1 in 10,000

phenylalanine] that is treated with
special diet (left untreated=brain deficit)

Tay Sachs Disease Enzyme deficiency→ lipid 1 in 4000

accumulation→progressive damage to 1 in 30 Jews = carrier
brain→ decrease in brain ability 1 in 20 French = carrier

Albinism Lack melanin and have no pigment in Less than 20,000 US

skin, hair, eyes (vision problems) cases per year
 3.​ Autosomal Dominant Disorders: (heterozygous) individual only needs
to inherit the gene change from one parent
Huntington’s -affects nervous system (fatal) 1 in 10,000
disease -nerves become damaged/brain deterioration

Tourette -tic disorder→uncontrollable motor and vocal 1 in 250

Syndrome tics

Achondroplasia Disproportionate short stature 1 in 15,000 - 40,000

4.​ Sex-linked disorders: when the X or Y chromosome carries the mutated

gene and causes a mutation
Fragile X syndrome -body cannot make enough of 1 in 4000 males
needed protein 1 in 8000 females

Hemophilia -blood clotting problems 1 in 10,000 males

Duchenne Muscular Weakening of muscles causing 1 in 3500 males

Dystrophy inability to move

5.​ Chromosomal Abnormalities: when a child inherits too many or too few
chromosomes
6.​ Autosomal chromosome disorders: too many or to few chromosomes
Down Syndrome/Trisomy Extra chromosome 21 that causes birth defects
21 Effects vary along with severity

Trisomy 9 Mosaicism Extra chromosome 9

Severity affected by proportions (various abnormalities)

Trisomy 13 Extra chromosome 13, Multiple fatal birth defects

Trisomy 18 Extra chromosome 18 , Multiple fatal birth defects

7.​ Sex-linked Chromosomal disorder (less or more sex chromosomes)

Turner syndrome (XO) A part of the chromosome is lost before/after conception, results
in XO composition→affects cognitive function

Klinefelter syndrome Extra X chromosome is present in male cells, still have male
(XXY) genitals, but inhibit growth and low testosterone levels

XYY syndrome Extra Y chromosome is present in male → taller than average,

learning problems

Triple X syndrome Extra X chromosome → taller than average, learning difficulties,

decreased muscle tone, kidney problems
III.​ Prenatal Development (germination, embryonic, fetal)
A.​ Germination Period
a)​ About 14 days
b)​ Conception to implantation of fertilized egg in uterus
c)​ Ejaculaiton (sperm released into vagina) → few reach egg →one
fertilizes →head of sperm (genes) unites with egg nucleus →
creates zygote (a cell containing the combined genetic
information from both parents) → Mitosis cell division →
Blastocyst (100 cells after 5 days) has both embryo (from inner
embryonic disk) and Trophoblast (outer cells) to nourish baby.
d)​ Mitosis: fragile process, only half of all zygotes survive, Why?:
uncomplete joining, too little genetic material, does not replicate,
does not implant in wall
B.​ Embryonic Period
1.​ Starts in 3rd week
2.​ Embryo: multi-cellular organism implanted in uterine wall
3.​ Blood vessels grow forming placenta (connected to uterus to provide
nourishment and oxygen for baby through umbilical cord)
4.​ Cells differentiate
a)​ Cephalocaudal development: head to tail dev.
b)​ Proximal development: middling outward
5.​ 4th week→ head develops and heart begins to pulse → human
appearance → most vulnerable state → can move and respond to touch
at this time
C.​ Fetal Period
1.​ 9th week until birth (44 weeks long)
2.​ Fetus: major structure continue to develop
3.​ All body parts by 3rd month
4.​ 4-6 months: eyes and hearing develop, cycles of sleep and
wakefulness,
5.​ 24 weeks: first chance of survival / age of viability (can feel pain)
6.​ 7-9 months: preparing for birth (exercising muscles lungs begin to expand
and contract, develops fat
7.​ 36 weeks: almost ready for birth
8.​ Monozygotic: identical twins (egg splits apart in the first two weeks of
dev. → two separate, but genetically identical offspring)
9.​ Dizygotic: fraternal twins (two egg meet two sperm at same time)
D.​ Teratogens
1.​ Good prenatal care is essential to baby and mom health
2.​ Teratogens: environmental factors that can contribute to birth defects
(maternal diseases, pollutants, drugs, alcohol)
3.​ Factors influencing prenatal risk:
a)​ The timing of the exposure
b)​ Amount of exposure
 c)​ Number of teratogens
d)​ Genetics
e)​ Being male or female
4.​ Four categories of teratogens
a)​ Physical: saunas, hot tubs, fever
b)​ Metabolic conditions: malnourished, diabetes, thyroid disorders
c)​ Infections: rubella virus herpes, syphilis
d)​ Drugs and Chemicals: radiation,metals, drugs, alcohol, etc.
Caffeine Over 200 mg (12 ounces) = miscarage or preterm birth

Tobacco Low birth weight, placenta previa, preterm, growth

restriction, infant death, cleft lip, later health problems

Alcohol Slow baby growth, affect brain, cause birth defects,

later health problems (range in severity)

Cocaine Low birth weight, stillbirths, abortion, placental

abruption, miscarriage, baby experience withdrawal

Marijuana Brain damage, stillbirth, premature birth

Heroin Birth defects, placental abruption, stillbirth, premature

birth infant death, low birthweight

OTC medication Some are safe, but some are not (consult doctor)

Prescription Consult healthcare provider

drugs

Herbal/Dietary Little known about these (some safe in small quantities,

supplements but may cause problems in big or over time)

Lead High blood pressure, damage to brain/nervous system,

premature birth, low birthweight, miscarriage

Mercury Brain damage and hearing/vision problems

Radiation Slow growth, birth defects, brain development, cancer,

miscarriage

Solvents Miscarriage, slow fetal growth, birth defects

Maternal infections

Rubella Damage eye, ear, heart, brain development

ZIda microcephaly

Varicella Affect eyes, limbs, skin, nervous system

 (chicken pox)

Sexual (HIV, syphilis, chlamydia) May pass to baby during

infections delivery

Listeria (foodborne illness) Miscarage stillbirth, premature labor,

Toxoplasmosis Miscarriage, stillbirth, hydrocephalus, vision issues

Lymphocytic Brain issues, neurological/visual impairment

choriomeningitis

E.​ Maternal factors

1.​ Mother over 35
a)​ Risk of: fertility problems, high blood pressure, diabetes,
miscarriages, placenta previa, c-section, stillbirth, baby with
genetic disorder, etc
b)​ Affect quality of the egg as time goes on
c)​ Older women are more stable, live longer, better maturity
2.​ Teenage Pregnancy
a)​ Risk of: Anemia and high blood pressure, premature babies, low
birthweight, not fully developed organs
b)​ Do not receive prenatal care (usually)
3.​ Gestational diabetes
a)​ Diabetes: too much glucose in bloodstream
b)​ If untreated: premature birth, stillbirth, breathing problems,
jaundice, low blood sugar and can cause preeclampsia in mom
4.​ High blood pressure (Hypertension)
a)​ Condition in which the pressure against the wall of arteries
becomes too high
5.​ Rh disease
a)​ Protein in the blood if Rh -, mom blood may attack babies blood if
different
b)​ Cause jaundice, anemia, heart failure, brain damage, death
6.​ Weight gain during pregnancy
Healthy weight Underweight before Overweight before Before pregnancy
before pregnancy pregnancy pregnancy

Gain 25-35 lbs Gain 28-30 lbs Gain 12-25 lbs Gain 11-20 lbs

1-4 ½ lb after 1st 1-4 ½ lb after 1st tri. 1-4 ½ lb after 1st tri. 1-4 ½ lb after 1st tri.
tri.

1 lb per week in 1 lb a week ½ lb per week in ½ lb per week in

2nd/3rd tri 2nd/3rd trimester 2nd/3rd trimester
 7.​ Stress
a)​ High levels of stress cause complications: premature baby/low
birth weight, brain development
b)​ Coping, like alcohol = harm of baby
8.​ Depression
a)​ Interfere with daily functions
b)​ Baby: premature, irritable, less active, less attentive, fewer facial
expressions
F.​ Paternal Impact
1.​ Age of fathers
a)​ (over 40) Risk of miscarriages, autism, birth defects,
schizophrenia, mutations
b)​ Exposed to harmful chemicals
2.​ Prenatal assessment
a)​ Blood, urine analysis and screen
b)​ Ultrasound: test using sound waves to examine the fetus
(1)​ Transvaginal: used in early pregnancy
(2)​ Transabdominal : common (after 10 weeks)
(3)​ Used to check for defects or problem, find out age,
placenta location, fetal position movement, heart rate,
gender, # of fetuses
c)​ Amniocentesis: a needle is used to withdraw a small amount of
amniotic fluid and cells from the sack surrounding the fetus
d)​ Chorionic Villus Sampling: small sample of cells is taken from
the placenta an tested
G.​ Complications of Pregnancy
1.​ Side effects: nausea, heartburn, gas, hemorrhoids, backache, leg cramps,
insomnia, constipation, shortness of breath, varicose veins.
2.​ Hyperemesis gravidarum: severe nausea, vomiting weight loss,
dehydration (unknown cause)
a)​ Treatment: diet, drinking fluids
3.​ Ectopic Pregnancy: when the zygote becomes attached to the fallopian
tube before reaching the uterus. (about 1 in 50 pregnancies)
a)​ Abdominal pain, vaginal bleeding, nausea, fainting
4.​ Spontaneous abortion: (20-40% of undiagnosed pregnancies)
a)​ 12th week of pregnancy
b)​ Cramping, bleeding, etc
5.​ Preeclampsia (Toxemia): rise in blood pressure, leakage of protein,
kidney problems
a)​ Second leading cause for maternal death
6.​ Maternal Mortality
a)​ Approx. 1000 women die in childbirth around the world per day
H.​ Infertility and building families
1.​ Infertility: failed to conceive in one year (10-15% of couples)
 a)​ Male: not enough sperm
b)​ Female; no ovulation, PID (infection of organs)
2.​ Building a family
a)​ Assisted reproductive tech: fertility medication artificial
insemination, vitro fertilization, surrogacy
(1)​ Intrauterine insemination: direct sperm placement in
ovaries
(2)​ Vitro fertilization: increase egg production
(3)​ Donor gametes and embryos: donated to help
(4)​ Surrogacy: another woman carries the child
(5)​ Adoption

Inherited traits

Trait Dominant Recessive

Earlobes Detached Attached

Tongue rolling Rolling Non-rolling

Ear Wiggling Can wiggle ears Can’t move ears

Dimples Have dimples No Dimples

Hand Clasping Left thumb on top Right thumb on top

Cleft chin Have a cleft chin No cleft in chin

Widow’s peak Has a widows peak Do not have

Hair on Middle segment of Have hair No hair

finger

PTC tasting Can taste Can’t taste