EGG AND SPERM: FERTILIZATION
Gamete viability
1. Oocyte viability
2. Sperm viability 1 to 3 days; up to 5
Sperm transport
1. Sperm transport millions are deposited with force in
vagina
2. Leakage millions leak from vagina
3. Acidic environment of the vagina; millions more lost
4. Cervical mucus if not liquefied, millions more will not
get through
5. Uterine contractions distributes through out uterus;
phagocytes get them
Sperm capacitation
1. Capacitation weakening sperm cell membrane to release
hydrolytic enzymes
2. Purpose why not before; wouldnt want this to happen in
male repro system
4. Cholesterol is depleted as sperm swims through cervical
mucus, uterus, u. tube
5. Mechanism still unknown
Fertilization
1. Acrosomal reaction from hundreds of ruptured acrosomes
-a. Acrosomal enzymes digest surrounding cells and
material
2.
3. Zona pellucida holes must be digested in this
4. Fusion of two gametes; sperm nucleus enters egg
5. Polyspermy would result if more than one sperm entered;
3n or more
6. Fast block prevents polysspermy; Na ions enter;
depolarizes; sperm cant bind
7. Slow block detaches sperm and destroys receptors that
can attach to egg
-a. Cortical reaction also called; cortical granules under
membrane; stuff does this
8. Meiosis II is completed
-a. Second polar body is produced; disintegrates with
first polar body
9. Pronuclei male and female nuclei swell
-a. Mitotic spindle forms between them
-b. Rupture pronuclei spill their chromosomes
-c. Diploid number is restored
10. Zygote what the resulting cell is called
EMBRYONIC DEVELOPMENT
Cleavage
1. Cleavage period of rapid mitotic division of the zygote
2. Morula at about 3 days; ball consisting of 16 or more
cells; still in tube
3. Blastocyst fluid filled hollow sphere
-a. Trophoblasts cells single layer flattened cells;
becomes placenta
-b. Inner cell mass cluster rounded one side blastocyst;
embryo
Implantation
1. Trophoblast cells those covering inner cell mass adhere
to endometrium
-a. Digestive enzymes are secreted
-b. Endometrium - thickens at the point of contact
inflammatory-like reaction
2. Trophoblast layers - two distinct
-a. Cytotrophoblast - cells of the inner layer retain cell
boundaries
-b. Syncytiotrophoblast - multinucleated cytoplasm that
invades the endometrium
3. Endometrial cell proliferation - covers over, seals
blastocyst from uterine cavity
4. Human chorionic gonadotropin (hCG) - LH like,
trophoblast, corpus lureum
-a. Chorion - develops from the trophoblast cells continues
hormonal stimulation
5. Placenta 2 to 3
month; placenta major producer of estrogen and progesterone
6. Corpus luteum -
degenerates after 2 months
7. Pregnancy test -
use antibodies against hCG
8. Nutrition - of the embryo changes
-a. Endometrial cells - digested initially
-b. Placenta - nutrients and oxygen, carrying away waste by
the 2nd month
Placentation
1. Placenta - a temporary organ; originates from embryonic
and maternal tissue
2. Chorion - the trophoblast give rise to
-a. Extraembryonic mesoderm develops on inner side of
trophoblast; now chorion
3. Chorionic villi - extensions of chorion, into the stratum
functionalis
4. Lucanae (intervillus spaces) - erosion of stratum
functionalis, blood filled spaces
5. Decidua basalis - endometrium between chorionic villi and
stratum basalis
6. Decidua capsularis - endometrium between embryo, uterine
cavity, degenerates
7. Placental layers - chorionic villi and the decidua
basalis
8. Exchange function - fully functioning by 3rd month,
exchanges well before
9. Hormone function - role of the chorion
-a. hCG - produced from the very beginning
-b. Steroidal hormones - estrogen and progesterone
production increase through out
Embryonic membrane
1. Amnion - surrounds embryo, physical protection,
transparent membranous sac
-a. Amniotic fluid - cushioned from trauma, from maternal
blood, fetal urine
2. Yolks sac - hangs from the ventral surface of the embryo
-a. Nutritive function - contains little yolk because
placenta provides most nutrients
-b. Gut - forms part of the digestive tube
-c. Blood cells - first producer of these
3. Allantosis - from out cropping from the caudal end of the
yolk sac
-a. Shelled eggs - animals develop in these use this to
store excreta
-b. Placental mammals - is used to construct the umbilical
cord
5. Chorion forms
placenta encloses embryo, all other membranes
Gastrulation: germ layer formation
1. Embryonic disc - 3rd week after fertilization cellular; 2
layered disk
2. Primitive streak - after amnion forms; raised grove,
longitudinal axis
3. Cell migration - migrate to primitive streak; laterally
between upper and lower
4. Ectoderm - dorsal boundary of the embryonic disc; skin
and nervous system
5. Endoderm - ventral surface; epithelial lining of
digestive, respiratory, urogenital
6. Mesoderm - between endoderm and ectoderm; forms almost
everything else
-a. Notochord - a rod of mesoderm; forms beneath the
primitive streak
-b. Mesenchyme - unlike endoderm, ectoderm (epithelial,
adhere), star shaped
Organogenesis: differentiation of ectoderm
1. Neuralation - the differentiation of the ectoderm into
the brain and spinal cord
-a. Notochord - releases chemical messages to induce
neuralation
-b. Neural plate - 17 day old; thickening in the ectoderm
above the notochord
-c. Neural grove - 18 day old; beginning of the folding in
of the neural plate
-d. Neural fold - by day 21 the neural grove deepens
-e. Neural tube - by day 23 superior margins fuse; detaches
from surface ectoderm
-f. Neural crest cells become cranial, spinal, sympathetic
ganglia; adrenal medulla
-g. Brain - anterior end neural tube
2. Skin - most remaining ectoderm becomes the epidermal
layer of the skin
3. Other structures - cornea, mucosa (oral, nasal cavities,
sinuses) endocrine (some)
Organogenesis: differentiation of endoderm
1. Cylindrical body from folding of the 3 layered embryonic
disc
2. Primitive gut - the tube of endoderm becomes the
epithelial lining
-a. Yolk sac part of it enclosed as part of the gut
3. Respiratory mucosa - forms as out pocketing of the
foregut
4. Hindgut - reproductive and urinary epithelial lining
associated glands
5. Midgut endoderm - gives rise to liver and pancreas
6. Mesoderm - forms the walls of these organs
Organogenesis: differentiation of mesoderm
1. Notochord - first mesoderm differentiation; remnant, part intervertebral disc
-a. Nucleus pulposus remnant; springy part of
intervertebral disc
2. Mesodermal aggregates - on sides of notochord; somites,
intermediate, lateral
3. Somites - series paired mesodermal aggregates; flank the
notochord laterally
-a. Sclerotome - form the vertebrae and ribs
-b. Dermatome - dermis of the dorsal part of the body
-c. Myotome - muscles of the trunk, neck, and most of the
limbs
4. Intermediate mesoderm - forms gonads, skin, and adrenal
cortex
5. Lateral mesoderm - consist of paired mesodermal sheets
-a. Somatic mesoderm - dermis (ventral body), parietal
serosa, limb buds
-b. Splanchnic mesoderm - forms heart, blood vessels;
contributes to viscera
6. Coelom - ventral body cavity resulting from the folding
of the
7. Mesodermal tissue others include
-a. Muscle - skeletal, cardiac, and smooth
-b. Connective tissue - bone, cartilage, and other
connective tissues
-c. Endothelium - of blood vessels and lymphatics
8. Cardiovascular system from splanchnic mesoderm (already
stated)
FETAL DEVELOPMENT
Fetal development
1. Fetus from weeks 9 to 40
2. Differentiation still occurring; not just getting
bigger
3. Ossification begins at about week 8
4. Notochord begins degenerating around week 9
5. Myelination of spinal cord; week 21
Fetal circulation
1. Umbilical vein - oxygenated blood from the placenta to
the fetus
2. Liver - some blood through, out the hepatic veins;
nutrients to liver cells
3. Ductus venosus - venous shunt bypasses liver into the
inferior vena cava
4. Foramen ovale blood from right to left atrium; bypasses
pulmonary circuit
5. Ductus arteriosus - from pulmonary trunk to the aorta
6. Umbilical arteries - branches internal iliac; poorly
oxygenated; metabolic waste
7. Newborn circulation - umbilical vein, arteries and shunts
are occluded
-a. Ligamentum teres - remnant of the umbilical vein
-b. Ligamentum venosum - remnant of the ductus venosus
-c. Fossa ovalis - remnant of the foramen ovale
-d. Ligamentum arteriosum - remnant of the ductus arteriosus
-e. Medial umbilical ligaments - remnants of the umbilical arteries
Fetal testing
1. Amniocentesis - after the 14th week; amniotic fluid,
several weeks, karyotype
2. Chorionic villi sampling tube suctions piece of chorionic villi; 8 wks. karyotype
3. Risk - both procedures so they are usually not done
unless the risk is worth it
PREGNANCY
Hormonal changes
1. Human chorionic gonadotropin LH like; keeps corpus
luteum secreting hormones
2. Chorion produces estrogen and progesterone at about 3
months
3. Relaxin corpus luteum, then chorion; relaxaton of pubic
symphysis, pelvic ligaments
Anatomical changes
1. Chadwicks sign - purplish hue of vagina,
increased vascularity
engorgement
2. Breast - engorge with blood, enlarge, and areolar
darkens; estrogen, progesterone
4. Uterine enlargement from fist size to occupying most of
abdominopelvic
5. Lordosis - increased lumbar curvature may result in back
aches
6. Waddling gait - pubic symphysis and pelvic ligaments
relax
7. Weight gain -29 pounds; fetus, placenta, organs and
breast, blood volume
Metabolic changes
1. Nutrition - especially protein, calcium, and iron
-a. Folic acid - may prevent spina bifida an anencephaly
-b. Caloric increases - no more than 300 extra calories per
day
2. Basal metabolic rate increases by 15% second trimester
3. Blood calcium kept high; Parathyroid hormone; fetal
bone growth
Physiological changes
1. Gastrointestinal system hormones; squeeze
-a. Morning sickness nausea; first few months levels
of steroid hormones
-b. Heartburn - reflux
stomach acid; stomach is crowded by the uterus
-c. Constipation - mobility of the digestive system is
reduced
2. Urinary system several changes
-a. Urine production - increase urine; also disposing fetal
metabolic waste
-b. Stress incontinence - compress bladder; urination
increase in frequency, urgency
3. Respiratory system - includes
-a. Nasal mucosa estrogen, nasal mucosa edematous,
stuffiness, nose bleeds
-b. Vital capacity - increases
-c. Respiratory rate - increases
4. Cardiovascular system - include
-a. Blood volume - increases 25 to 40%; including cells;
fetal needs
-b. Cardiac output - ↑ blood pressure, pulse, pump
greater circulatory volume
-c. Varicose veins compression, uterus, impair blood
return from the lower limbs
PARTURITION
Initiation of labor
1. Estrogen - levels rise to their highest levels the last
couple weeks
-a. Oxytocin receptors - on myometrial cells become numerous
-b. Progesterone quieting - of uterine smooth muscle is
antagonized
2. Braxton Hicks contractions - weak, irregular contractions
(false labor)
3. True labor false labor converted; two important chemical
signals
-a. Oxytocin -by fetus; uterine stimulant; causes placenta
release prostaglandin
-b. Prostaglandin - also a powerful uterine muscle
contractor
4. Hypothalamus emotion, physical stress posterior
pituitary release oxytocin
5. Positive feedback - ↑oxytocin, ↑uterine
contraction, ↑cervical pressure, ↑oxytocin
Stages of labor
1. Dilation stage (stage 1) - onset of labor to fully
dilated by the infants head; 10 cm
-a. Infants head - forces against the cervix making it
thinner and dilating it
-b. Duration - longest lasting 6 to 12 hours, or even longer
-c. Engagement - head in
pelvis; rotates, greatest dimension anteroposterior line
2. Expulsion stage (stage 2) - from full dilation to
delivery
-a. Contractions stronger and more frequent
-b. Duration - 50 minutes first birth and 20 for others
-c. Crowning - largest diameter of babys head distending
the vulva
-d. Episiotomy - incision made to widen the vagina to reduce
tissue tearing
-e. Vertex presentation - head first acts as a wedge to
dilate; normal
-f. Breach presentation- buttocks first, other nonvertex
presentation; complications
3. Placental stage (stage 3) - delivery of the placenta;
within 30 minutes after birth
-a. Uterine contractions - compress vessels, prevent
bleeding, detaches placenta
-b. Afterbirth - placenta and fetal membranes
-c. Umbilical cord - is tugged to remove placenta; must
remove all; prevent bleeding
NEONATAL ADJUSTMENTS
Neonatal adjustments
1. Neonatal period - four week period immediately after
birth
2. Respiratory control centers detached; CO2; central
acidosis; first inspiration
3. Vascular adjustments - several
-a. Umbilical arteries - constricts and becomes fibrosed
-b. Umbilical vein - becomes the ligamentum teres (round
ligament of the liver)
-c. Ductus venosum collapses; blood stops flowing through
umbilical vein
-d. Foramen ovale - left heart pressure ↑; right heart
pressure ↓ closes a flap
-e. Ductus arteriosus - constricts and is converted to the
ligamentum arteriosum
4. Transitional period - 6 to 8 hours after birth; sleep
wake cycle develops
LACTATION
Lactation
1. Prolactin - released by anterior pituitary stimulates
milk production
2. Colostrum few days before milk less lactose fat, more
protein, Ig A
3. Mechanical stimulation - mechanoreceptors impulse;
hypothalamus, prolactin
4. Let-down reflex - the ejection of the milk from the
alveoli
-a. Nipple pressoreceptors - activated due to suckling of
infant
-b. Hypothalamus posterior pituitary; oxytocin
-c. Oxytocin myoepithelial cells contract
5. Maternal advantages - oxytocin helps shrink uterus
6. Neonate advantages - several
-a. Nutrition fats, iron is better absorbed amino acids
are metabolized better
-b. Protection - along with Ig A, there is lysozyme,
complement, and more
7. Nursing stops - stimulus for prolactin stops and so does
milk production
VOCABULARTY OF GENETICS
General
1. Genetics - the study of the mechanisms of heredity
2. Gregory Mendel - first proposed the rules of gene
transmission in the mid 1800s
3. Sex chromosomes - a pair of chromosomes, X and Y, which
determine genetic sex
4. Autosomes - the other 22 pairs; determine the expression
of most traits
5. Karyotype - diploid chromosomal complement
6. Genome - the diploid genetic (DNA) make up
Gene pairs (alleles)
1. Locus - the location of a gene on chromosomes
2. Allele - same location on homologous chromosomes; code
for forms of the gene
3. Homozygous - when both alleles code for the same form of
the trait
4. Heterozygous - when both alleles code for different forms
of the trait
5. Dominant - when one allele mask the expression of the
other, capital letter (J)
6. Recessive - the allele which is being masked, small
letter (j)
7. Homozygous dominant - both alleles code for the dominant
trait (JJ
8. Heterozygous dominant - 1 dominant; 1 recessive (Jj)
9. Homozygous recessive - both code for the recessive trait
( jj)
10. Allele frequency - the dominant is not always the most
frequently expressed
Genotype and phenotype
1. Genotype - genetic make up includes jj, Jj, and JJ1.
Genotype - genetic make up includes jj, Jj, and JJ
2. Phenotype - the outward expression of the genotype
SEX AND GENETIC VARIABLITY
Segregation and independent assortment of chromosomes
1. Metaphase I - the pairs of homologous chromosomes pair up
2. Segregation - members of allele pair go to different
gametes during meiosis
3. Independent assortment - allele pairs randomly
distributed
4. 2n - calculate the number of possible gametes;
n = 23 leads to 8.5 million
Crossover of homologues and gene recombination
1. Linked genes - genes which are on the same chromosome;
inherited as a block;
2. Recombinant chromosomes - can result during meiosis as
3. Crossover - breaks occur between linked genes
-a. Chiasma - name for the crossover
-b. Number - many crossovers can occur during synapsis
-c. Chromosome length - the longer the greater the number of
crossing over
Random fertilization
1. Random fertilization incredible amount of variability
2. Possible number - 72 trillion different combinations (8.5
million 8.5 million)
TYPES OF INHERITANCE
Dominant-recessive inheritance
1. Human inheritance - few visible phenotypes are result of
this type of inheritance
2. Punnett square - combinations of genes in offspring;
parents of known genotype
-a. Percentages - possible percentages genotype and phenotype
3. Phenylketouria
phenylalanine metabolism disorder; mental retardation; recessive
4. Dominant traits - listed
-a. Normal traits - widows peak, dimples, freckles, and
detached earlobe
-b. Dominant disorders rare; death of the fetus or child;
5. Recessive traits - listed
-a. Positive traits - such as normal vision and not having
astigmatism
-b. Recessive disorders - most disorders; Tay-Sachs, cystic
fibrosis
-c. Carriers - people who are heterozygous dominant for a
Incomplete dominance (intermediate inheritance)
1. Heterozygous - between homozygous dominant and homozygous
recessive
2. Sickle cell anemia - both alleles for sickle cell anemia
suffer all the symptoms;
3. Sickle cell trait heterozygous; healthy but may suffer
when oxygen level low
Multiple-allele inheritance: Codominance
1. Multiple-allele inheritance - more than two forms of gene
which can be present
2. ABO blood groups - three possible alleles: IA,
IB, and i with the
3. Codominant in ABO blood group; IA and IB
are codominant
4. Type A phenotype: genotypes IAIA
or IAi
5. Type B phenotype: genotype IBIB
or IBi
6. Type AB phenotype: genotype IAIB
7. Type O phenotype: genotype ii
Sex determination
1. Sex chromosomes
23 pair, not homologous like the autosomal
2. Females have X
and X
3. Males have X
and Y
Sex-linked inheritance
1. Sex linked - genes carried on sex chromosomes
2. Sex chromosomes - are not true homologous chromosomes
3. X-linked only on the X chromosome; usually case as it
has 2500 genes
-a. Recessive - expressed if on X chromosome in the male;
hemophilia, color blind
4. Y-linked - only on the Y chromosome which is; 15; hairy
pinna
Polygene inheritance
1. Polygene inheritance - phenotypes depend on different
gene pairs acting together
2. Skin color - controlled by three sets of alleles
3. Continuous variation - or qualitative variation in the
phenotype considered
4.
5. Other examples - height and eye color
OTHER TOPICS
Environmental influences
1. Embryonic development teratogens; thalidomide babies
2. Nutrition post partum; cretinism
3. Exercise influences physical appearance
Nontraditional Inheritance
1. Genomic imprinting paternal, maternal genes marked different,
expressions
-a. Methylation - methylated differently during oogenesis
and spermatogenesis
-b. Erased - methylation pattern erased during gametogenesis
of next generation
-c. Chromosome 15 region deleted; Prader-Willi ♂(not
to bad); Angelman ♀ (bad)
2. Extrachromosomal (mitochondrial) inheritance
-a. Maternal - mitochondrial genes are going to be of
maternal origin
-b. Disorders - rare neurological muscle disorders; maybe
Parkinsons
Genetic Screening, Counseling, and Therapy
1. Newborns - screened for anatomical disorders and
phenylketonuria
-a. Phenylketonuria (PKU) - testing law eliminating most
phenylalanine
2. Trisomy 21 (Downs syndrome) - chances increase
dramatically after age 35
3. Carrier recognition couple techniques; one traditional,
other hi-tech
-a. Pedigree analysis - data is collected, phenotype many
relatives genotype deduced
-b. Blood test - simple test are used to screen for the
sickle cell trait
-c. DNA probes - cystic fibrosis and Tay-Sachs can be
identified
4. Human gene therapy - defective gene replacement, easy
when the single gene
-a. Retrovirus - is used as a vector, nondefective copy
-b. Direct DNA injection - another example of who it works
-c. Success - cystic fibrosis and muscular dystrophy
-d. Ethical questions who cares