Chapter 28

Development and Inheritance

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 Fertilization

• Before fertilization can occur, sperm must reach

secondary oocyte
• Oocyte viable for 12 to 24 hours
• Sperm viable 24 to 48 hours after ejaculation
• For fertilization to occur, coitus must occur no more
than 2 days before and at least 24 hours after
ovulation
• Fertilization: sperm’s chromosomes combine with
those of secondary oocyte to form fertilized egg,
called a zygote

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 Sperm Transport and Capacitation

• Most ejaculated sperm do not make the

trip to join with the oocyte
• Some leak out of vagina immediately
after deposition
• Some are destroyed by acidic vaginal
environment
• Some fail to make it through cervix
• Some are dispersed in uterine cavity
or destroyed by phagocytes
• Only a few thousand out of millions
reach uterine tubes (many of which
choose the wrong tube)
• Only a couple hundred will reach the
oocyte

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 Sperm Transport and Capacitation
• Sperm must be capacitated before they can
penetrate oocyte
• Male reproductive tract: motility initiated by seminal
fluid
• Female reproductive tract: cell membranes become
fragile enough to release hydrolytic enzymes
• Secretions of female tract help to weaken and thin out
acrosome membrane
• Sperm have use chemotaxis to guide them towards
the oocyte
• Sperm have olfactory receptors
• Cumulus cells within follicle and surrounding the
oocyte secrete progesterone (chemoattractant)
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 Acrosomal Reaction and Sperm
Penetration

• Sperm reaches oocyte by several steps:

1. Approach: aided by enzymes, sperm weaves through corona
radiata
• Enzyme on cell surface of sperm acts to digest connection between
granulosa cells, causing them to separate
• Sperm heads then bind to sperm-binding receptors in zona pellucida,
causing sperm membrane calcium channels to open
• Ca2+ flows into each sperm, triggering acrosomal reaction
2. Acrosomal reaction
• When triggered by calcium influx, enzymes from many sperm are
released that digest holes in zona pellucida
• Hundreds of acrosomes in region all release enzymes at same time to
digest zona pellucida
• Many are required to clear a path to oocyte membrane

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 Acrosomal Reaction and Sperm Penetration
3. Binding receptor
• After path has been cleared in zona pellucida, a
single sperm forcibly swims towards oocyte
membrane
• Acrosomal collar on rear portion of acrosomal
membrane binds to oocyte plasma membrane
sperm-binding receptor
• Binding causes:
• Oocyte to form microvilli that wrap around
sperm head
• Trigger fusing of oocyte and sperm
membranes
4. Fusion of membranes
• Oocyte and sperm membranes fuse
• Cytoplasmic contents of sperm enter oocyte
• Tail and other parts, such as sperm cell
membrane and mitochondria, are left behind
on oocyte cell membrane surface
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 Blocks to Polyspermy
Polyspermy does occur in some animals, but in
humans, only monospermy is allowed
• One-sperm-per-oocyte condition
Two mechanisms prevent polyspermy
1. Fast block: (1 – 3 seconds) when a sperm binds
to sperm-binding receptor on oocyte, sodium
channels open shifting RMP to positive
• sperm can not bind to positively charged oocyte
plasma membrane
2. Slow block: (~ 60 seconds after sperm binds)
• Ca++ surge from oocyte ER that causes:
• Completion of second meiotic division
• Cortical reaction: granules located just inside
oocyte plasma membrane release zonal
inhibiting proteins, or ZIP enzymes, which
destroy zona pellucida sperm-binding receptors
and harden zona pellucida by cross-linking
proteins
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 Completion of Meiosis II and Fertilization
• Events involved include:
1. Ca2+ surge triggers completion of meiosis II in oocyte, resulting in
ovum + second polar body
• Ovum nucleus swells to become female pronucleus
2. As sperm nucleus moves toward oocyte nucleus, it also swells
• Forms male pronucleus
3. DNA in each pronucleus replicates (in preparation for first cell
division following fertilization), and as pronuclei get closer, a mitotic
spindle forms between them
• Nuclear envelopes dissolve, releasing chromosomes together in vicinity
of mitotic spindle
4. Maternal and paternal chromosomes combine, forming diploid
zygote
• Fertilization: nuclear fusion

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 Events of fertilization

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 Events of fertilization

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 Events of fertilization

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 Events of fertilization

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 Zygote to Blastocyst
• The first cell division of the new zygote is swift
• Embryonic development continues as embryo travels through uterine
tube to uterus, where it floats freely until it implants
• Significant events in this process:
• Cleavage
• Occurs while zygote moves toward uterus
• Rapid mitotic divisions of zygote occur
• First cleavage occurs after ~36 hours and produces two daughter cells
called blastomeres, which continue to divide
• After 72 hours, cluster of cells contains16 or more cells and is referred to
as a morula

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 Zygote to Blastocyst
• Significant events in this process:
• Blastocyst Formation
• Around day 4 or 5, embryo, which consists of ~100 cells and is now
referred to as a blastocyst, reaches uterus
• Blastocyst is fluid-filled hollow sphere composed of
• Embryoblast (inner cell mass): cluster of 20–30 rounded cells
• Becomes embryonic disc, which will form embryo and 3
extraembryonic membranes
• Trophoblast – single layer of flattened cells

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 Cleavage: From Zygote to Blastocyst

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 Implantation and Placentation

• Blastocyst floats for about 2–3 days

• Nourished by uterine secretions
• Implantation begins 6–7 days after ovulation
• Trophoblast cells adhere to site with proper receptors
and chemical signals
• Inflammatory-like response occurs in endometrium
• Uterine blood vessels become more permeable and
leaky; inflammatory cells invade area

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 Implantation of the Blastocyst

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 Implantation of the Blastocyst

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 Implantation of the Blastocyst
• Trophoblast cells proliferate and form two distinct layers
• Cytotrophoblast (cellular trophoblast): inner layer of
cells
• Syncytiotrophoblast (syncytial trophoblast): cells in
outer layer
• invade and digest endometrium

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 Implantation of the Blastocyst

Embryonic disc forms from embryoblast cells during early implantation

• Disc will give rise to embryo

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 Implantation of the Blastocyst

• As endometrium is eroded, blastocyst burrows into lining, surrounded by pool of leaked

blood

• Endometrial cells then cover and seal off implanted blastocyst

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 Implantation
• In cases where implantation fails to occur, uterus becomes nonreceptive again
• About two-thirds of all zygotes formed fail to implant by end of first week or
spontaneously abort
• An estimated 30% of implanted embryos later miscarry because of genetic
defects of embryo, uterine malformation, or unknown problems
• Implantation is usually completed by day 12 after ovulation (day 26 of menstrual
cycle); about same time menstruation would occur
• The syncytiotrophoblast secretes human chorionic gonadotropin (hCG).
• Maintains Corpus Luteum to prevent menstruation
• Prevents immune system from rejecting the embryo
• Pregnancy tests contain antibodies that detect hCG in urine

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 Fates of structures of the blastocyst

• Trophoblast –
• Extraembryonic membrane
• Chorion
• Placenta
• Inner cell mass (ICM) of
embryoblast
• Embryo
• Extraembryonic membranes
• Amnion
• Yolk sac
• Allantois

• Cells of ICM are totipotent –

have the potential to
differentiate into any type of the
body
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 Embryonic Development

• Inner cell mass of embryoblast divides into two layers:

epiblast and hypoblast
• Subdivided inner cell mass is now called embryonic
disc

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 Extraembryonic Membranes
• Extraembryonic membranes form during first 2–3 weeks of
development and include 4 structures:
• Amnion: epiblast cells form transparent sac filled with amniotic fluid
that envelopes embryo
• provides buoyant environment that protects embryo
• Helps maintain constant homeostatic temperature and protect
embryo from trauma
• Allows freedom of movement

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 Extraembryonic Membranes
• Yolk sac: hypoblast cells form membrane in the ventral space
between the embryonic disc and the trophoblast
• Supplies nutrients during early development
• Reduces in size once placenta takes over as source of nutrition
• Function then becomes source of early blood cells and germ cells

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 Extraembryonic Membranes

extraembryonic membranes continued

• Allantois: small outpocketing at caudal end of yolk
sac
• Structural base for umbilical cord
• Becomes part of urinary bladder
• Chorion: helps form placenta
• from trophoblast, not embryoblast
• Encloses embryonic body and all other membranes

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 Placentation
• Formation of placenta, temporary organ that originates from both
embryonic and maternal tissues
1. Embryonic portion of placenta:
• Cells from embryoblast form chorion that then develops fingerlike
projections called chorionic villi
• Chorionic villi are then invaded by new blood vessels, which extend to
embryo as umbilical arteries and vein
• Continuing erosion of endometrium produces large, blood-filled lacunae
(intervillous spaces)
• Villi lie in intervillous spaces totally immersed in maternal blood

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 Placentation
2. Maternal portion of placenta includes:
• Decidua basalis: endometrium located between chorionic villi
and stratum basalis of endometrium
• Decidua capsularis: part of endometrium at uterine cavity face
of implanted embryo
• Portion of placenta that expands to accommodate growing
fetus
• Villi in decidua capsularis degenerate as fetus grows, while
villi in decidua basalis increase in number and branches
• Together chorionic villi and decidua basalis make up
placenta

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 Placentation
Placenta – organ providing interface between maternal and fetal
circulation. Site of:
• Gas exchange
• Transfer of nutrients to fetus
• Transfer of waste from fetus to mother
• Other fetotoxic substances that can cross the placenta
• alcohol
• Fetal alcohol spectrum disorders (FASD) are fetal abnormalities that result from
alcohol consumption by pregnant mother. These include organ and facial
malformations, as well as cognitive and behavioral disorders.
• nicotine
• barbiturates
• antibiotics
• certain pathogens

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 Gastrulation: Germ Layer Formation

• Cells of bilayer embryonic disc begin to migrate

• Gastrulation occurs during week 3, when
embryonic disc transforms into three-layered
embryo with three primary germ layers present:
• Ectoderm
• Mesoderm
• Endoderm

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 Formation of the Three Primary Germ Layers

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 Gastrulation: Germ Layer Formation
• Groove with raised edges,
primitive streak, appears
• Cells begin to migrate into
groove
• First cells that enter
displace hypoblast of yolk
sac to form endoderm
• Cells that follow push
laterally, forming mesoderm
• Epiblast is now called the
ectoderm

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 Gastrulation: Germ Layer Formation

• Ectoderm, mesoderm, and endoderm are primitive

tissues from which all body organs are derived
• Cells found in:
• Ectoderm—become nervous system and epidermis
• Endoderm—become epithelial linings of digestive,
respiratory, and urogenital systems and associated
glands
• Mesoderm—becomes everything else

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 Embryonic Development: Organogenesis

• Gastrulation sets stage for organogenesis, formation of body organs and

systems
• Embryo begins as flat plate, but as it grows, it achieves cylindrical body
resembling three stacked sheets of paper folding laterally into tube, and at both
ends

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 Embryonic Development:
Organogenesis
Specialization of ectoderm
• Neurulation
• First major event of organogenesis
• Gives rise to brain and spinal cord
• Induced by chemical signals from
notochord – tube of mesoderm
• Fated to be nucleus pulposus of
vertebral discs
• Ectoderm over notochord thickens,
forming neural plate
• Neural plate folds inward as neural
groove with neural folds

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 Embryonic Development:
Organogenesis
• Specialization of ectoderm
• By day 22, neural folds fuse into neural
tube
• Anterior end of tube will form brain;
rest of tube forms spinal cord
• Neural crest cells migrate widely to
form:
• Cranial, spinal, and sympathetic
ganglia and nerves
• Adrenal medulla chromaffin cells
• Pigment cells of skin
• Contributes to some connective
tissues

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 If neural folds fail to fuse completely, can result in condition
called spina bifida.
• spina bifida occulta – mildest form, only spine defects;
typically no outward symptoms, maybe a tuft of hair
• meningocele – meninges protrude to form sac full of CSF
under the skin
• myelomeningocele – underdeveloped spinal cord protrudes
into sac of CSF that may not be covered by skin, exposing
tissues

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 Organogenesis
• Specialization of mesoderm
• First evidence of mesodermal differentiation
is appearance of notochord
• Eventually replaced by vertebral column
• In adult, the only remnant of the notochord is
the nucleus pulposus of the intervertebral
disc.

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 Neurulation and Early Mesodermal
Differentiation

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 Organogenesis
• Specialization of mesoderm
• Three aggregates appear laterally of notochord:
1. Somites: blocks of mesoderm
• Sclerotome cells produce vertebra and rib at each level
• Dermatome cells form dermis of skin on dorsal part of body
• Myotome cells form skeletal muscles

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 Major Derivatives of the Embryonic Germ
Layers

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 Events of Fetal Development

• Greatest amount of growth occurs in first 8 weeks, when embryo grows from one
cell to
1-inch-long fetus

• Fetal period: weeks 9 through 38

• Time of rapid growth of body structures established in embryo

• Fetus grows to 360 mm (14 inches) and 3.2 kg (7 lbs +)

• Changes in fetal appearance are dramatic

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 Trimesters
Gestational period is 40.5 weeks
• full-term pregnancy lasts approximately 270
days (approximately 38.5 weeks) from
conception to birth
• Due date is set as 284 days from last
menstrual period.
• Conception occurs around day 14 (ovulation),
but uterus is preparing for implantation prior to
fertilization
Gestation divided into three 13-week periods
• 1st Trimester – weeks 0 - 13
• 2nd Trimester – weeks 14 – 27
• 3rd Trimester – weeks 28 - 40

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 Effects of Pregnancy on Mother: The Second
and Third Trimesters
• Pregnancy and Maternal Systems
• Developing fetus is totally dependent on
maternal organ systems for nourishment,
respiration, and waste removal

• Maternal adaptations in second and

third trimesters include increases in:
• Respiratory rate and tidal volume
• Blood volume
• Nutrient and vitamin intake ( 10-
30%)
• Glomerular filtration rate
50%); increased urinary frequency
• Size of uterus and mammary glands

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 Effects of Pregnancy on Mother: The Second
and Third Trimesters
• The dermis has to stretch to accommodate
• Abdominal swelling due to increased size of uterus
• Increased breast tissue
• Fat gets deposited on thighs and hips
• Can lead to torn connective tissue which cause striae (stretch marks)

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 Pregnancy Hormones
• Hormone human chorionic gonadotropin (hCG):
• Secreted by trophoblast cells and later chorion
• Prompts corpus luteum to continue secretion of progesterone and estrogen
• Promotes placental development
• hCG levels rise until end of month 2
• Decline as placenta begins to secrete progesterone and estrogen
• Low values occur at 4 months and continue for rest of pregnancy

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 Pregnancy Hormones
• Up to week 12, corpus luteum is primary source of progesterone and
estrogen
• Between weeks 12 – 17, corpus luteum degenerates and placenta takes
over endocrine function
• produces progesterone
• Suppresses FSH and LH, preventing ovulation
• Suppresses uterine contractions
• Decline of progesterone late in pregnancy allows uterine contractions to increase

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 Pregnancy Hormones
• Between weeks 12 – 17, corpus luteum degenerates and placenta takes
over endocrine function
• Produces high levels of estrogen
• Suppresses FSH and LH, preventing ovulation
• Induce fetal growth and viability
• stimulate uterine enlargement and mammary duct expansion and branching
• Produces relaxin
• increases the elasticity of the symphysis pubis and pelvic ligaments
• Expansion of the birth canal
• Helps dilate cervix

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 Pregnancy Hormones
• Anterior pituitary increases production
• Thyroid stimulating hormone (aka thyrotropin)
• Increased thyroid hormone production increase maternal metabolic rate
• Adrenocorticotropic hormone (ACTH)
• stimulates maternal cortisol secretion, which contributes to fetal protein
synthesis
• Prolactin
• stimulates enlargement of the mammary glands in preparation for milk
production

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 Labor

• Parturition (childbirth)
• Is forcible expulsion of fetus
• Contractions
• increasing ratio of estrogen:progesterone makes the myometrium more
sensitive to stimuli that promote contractions
• Contractions begin near top of uterus, sweep in wave toward cervix
• decreasing levels of progesterone in late pregnancy my result in weak and
irregular peristaltic Braxton Hicks contractions (false labor).
• Stages of Labor
1. Dilation stage - cervix opening widens
2. Expulsion stage
3. Placental stage (afterbirth) - ejection of the placenta

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 Labor
Events you should be aware of.
• “Bloody show”
• During pregnancy, mucus collects in
the cervical canal, blocking entry to the
uterus – mucus plug
• 1 -2 days prior to labor, the plugs
loosens and is expelled along with a
small amount of blood
• “water breaking”
• Amnion ruptures releasing amniotic
fluid
• Delivery should take place within 24-
48 hours of this event to reduce the
risk of infection

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 Initiation of Labor
Positive feedback mechanism occurs in
true labor
• Greater distension of cervix causes
more oxytocin and prostaglandin
release, causing greater contractile
force, leading to greater distension of
cervix, causing release of more
oxytocin
• When childbirth is not progressing and
labor must be induced, a drug analog
of oxytocin, known as Pitocin, is
administered

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 Stages of Labor
• Three stages
1. Dilation stage
• Lasts from labor’s onset to fully dilated
cervix (10 cm in diameter)
• Longest stage of labor: 6–12 hours or
more
• Initial weak contractions:
• 15–30 minutes apart, 10–30
seconds long
• Become more vigorous and rapid
• Cervix effaces (softens, thins, and
shortens) and dilates fully to 10 cm
• Amnion ruptures, releasing amniotic
fluid (water breaks)

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 Stages of Labor

2. Expulsion stage
• Lasts from full dilation to delivery of infant
• Strong contractions every 2–3 minutes, each about 1 minute long
• Urge to push increases (in absence of local anesthesia)
• Crowning occurs when largest dimension of head distends vulva
• Episiotomy, incision made to widen vaginal orifice, may be done to
reduce tearing

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 Stages of Labor
2. Expulsion stage (cont.)
• Baby’s neck extends as head exits perineum
• Once head has been delivered, rest of body is delivered more easily
• Vertex position: usual, head-first presentation
• Skull dilates cervix
• Early suctioning allows breathing prior to complete delivery
• Breech position: buttock-first
• Delivery is more difficult; often forceps or Caesarian section (C-
section; delivery through abdominal and uterine wall incision) is
required

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 Stages of Labor
3. Placental stage
• Delivery of afterbirth (placenta and membranes) occurs within 30
minutes after birth
• Strong contractions continue, causing detachment of placenta and
compression of uterine blood vessels
• Contractions limit bleeding and shear placental from uterine wall,
causing detachment
• All placenta fragments must be removed to prevent postpartum bleeding

• Contractions continue for several

hours after birth
• Uterus returns to pre-pregnancy size
– involution
• Mother will experience lochia –
vaginal discharge of uterine cells,
blood cells, and debris – for up to 2
weeks

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 Clinical – Homeostatic Imbalance
• Preeclampsia
• Dangerous complication of pregnancy that can result in hypertension
and proteinuria
• Proteinuria can lead to edema
• Hypertension leads to severe complications
• Only cure is delivery of baby
• Cause is not well understood, but linked to blood vessel development
in placenta
• Gestational Diabetes
• For of diabetes mellitus that develops only during pregnancy, around
24 weeks
• High blood-sugar
• ~10% of pregnant women will develop GD
• ~ 50% of women with GD will develop Type 2 DM later in life
• Cause is hormonal changes associated with pregnancy

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 Extrauterine Life of Infant
• Birth is a shock to baby, so physical status is assessed within
1–5 minutes after birth by Apgar score; 0–2 points each for:
• Score of 8–10 means healthy baby
• Neonatal period: 4 week period immediately after birth

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 Lactation
• During 2–3 day delay until true milk comes
in, mammary glands secrete colostrum
• Yellowish fluid that is low fat, low sugar,
but high protein, with vitamin A and
minerals
• Also rich in IgA antibodies
• IgA is resistant to digestion, so may
protect infant against infection
• Some may be absorbed into
bloodstream to provide broader
immunity
• True milk
• watery, translucent, rich in lactose and
protein

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 Milk Production and the Positive Feedback
Mechanism of the Milk Let-Down Reflex

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 Genes and Human Development

• Genes, segments of DNA, contain the “recipe,” or blueprints, for

synthesis of proteins

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 Genes and Human Development

• Genetics: study of the mechanism of

heredity
• Basic principles of genetics were
proposed in mid-1800s by Gregor
Mendel, who studied inherited
characteristics that were either all or
none
• Human traits are much more
complex than that
• Human Genome Project was
international effort to map and sequence
the human genome.
• Launched in 1990
• In 2003, project had successfully
mapped the first complete human
genome
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 Vocabulary of Genetics
• Diploid number (46) of chromosomes in all cells except gametes
• 23 pairs of homologous chromosomes
• 1 pair of sex chromosomes that determine genetic sex (XX = female,
XY = male)
• 22 pairs of autosomes (non-sex chrmosomes) that guide expression of
most other traits
• Karyotype: diploid chromosomal complement displayed in homologous
pairs

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 Vocabulary of Genetics
• Genome: complete genetic (DNA)
makeup of an individual; two sets of
genetic instructions (maternal and
paternal)
• Differentiated cells/tissues may have
different proteome (complete set of
proteins produces), but all have the
same DNA composition in nucleated
cells.
• Differences arise due to alterations in
gene expression (which genes are
turned on/controlled) between
individual cells

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 Vocabulary of Genetics
• Gene pairs (alleles)
• Alleles are genes that occur at same locus (location) on homologous
chromosomes
• DNA sequence can be the same or different
• Homozygous: alleles are same for single trait
(DNA sequence is same on both homologous chromosomes)
• Heterozygous: alleles are different for single trait
(DNA sequence is different on one homologous chromosome than
other)

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 Vocabulary of Genetics
• Gene pairs (alleles) (cont.)
• Dominance: one allele masks (suppresses) expression
of its recessive partner
• Dominant allele is denoted by capital letter and
recessive by same letter, but in lowercase
• Example:
• Freckles is a dominant trait, designated as F
• No freckles is recessive trait designated as f

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 Vocabulary of Genetics

As long as one copy of the gene contains

the dominant allele, it will be expressed
• Example: FF or Ff will result in freckles

Recessive trait is expressed only if both

alleles are recessive
• Example: no freckles occurs only if person has ff

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 Genotype and Phenotype
• Genotype: genetic makeup of a person for a trait
• For freckles example, person can have three possible genotypes: FF,
Ff, or ff
• Phenotype: physical expression of genotype (physical, behavioral,
biochemical)
• For freckles example:
• Person with genotypes FF or Ff, the phenotype is freckles
• Person with genotype ff, the phenotype is no freckles

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 Sexual Sources of Genetic Variation

• Each person is genetically unique as a result of

three events
• Independent assortment of chromosomes
• Crossover of homologues
• Random fertilization of eggs by sperm

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 Chromosome Segregation and Independent
Assortment
• Two important separations of
traits occur in meiosis I of
gametogenesis:
• Segregation: two alleles of
one particular trait will be
separated and distributed to
two different daughter cells
(maternal and paternal
chromosomes separate)
• Example: for Tt —allele T
will go in one daughter cell,
and allele t will go in other
• Errors in segregation can
lead to cancer, infertility,
and Down syndrome

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 Chromosome Segregation and Independent
Assortment
• Independent assortment: alleles of two different
traits on two different chromosomes are distributed
independently of each other
• Example: Bb is on one chromosome, and Jj is on
another chromosome, so possibilities of inheritance
are: BJ, Bj, bJ, and bj
• Whether you inherit a B or b is independent of whether
you inherit a J or j
• Independent assortment’s incredible variety can be
calculated; number of gamete types is , where n =
number of homologous pairs
In gametes, 2²³ = 8.5 million combinations!

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 Gamete Variability Resulting from Independent
Assortment

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 Crossover of Homologues and Gene
Recombination
• Genes on same chromosome are linked and can be
passed to daughter cells as one unit
• During crossover (or chiasma), however,
homologous chromosomes can break, even
between linked genes, and a precise exchange of
gene segments can result in recombinant
chromosomes
• Chromosomes are now a mixture of contributions
from each parent
• Results in tremendous variability

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 Crossing Over and Genetic
Recombination

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 Crossing Over and Genetic
Recombination

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 Crossing Over and Genetic
Recombination

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 Crossing Over and Genetic
Recombination

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 Patterns of Inheritance

• Few phenotypes can be traced to single gene (monogenic, or Mendelian)

• Cleft chin
• Dimples
• Freckles
• Widows peak
• Blood-type
• Diseases
• Cystic fibrosis
• Sickle cell anemia
• Huntington’s
• Hemophilia
• Neurofibromatosis
• Duchenne Muscular Dystrophy

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 Patterns of Inheritance

• Most traits determined by multiple alleles or by interaction of several gene

pairs (polygenic, or non-mendelian)
• Skin color
• Height
• Eye color
• Stature
• Many diseases
• Cancer
• Type 2 Diabetes mellitus
• Heart disease
• Alzheimer’s disease
• Parkinson’s disease
• Arthritis

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 Dominant-Recessive Inheritance

• Inheritance involves an interaction between dominant and recessive alleles

• Punnett square: diagram used to predict possible gene combinations resulting
from mating of parents of known genotypes

If we cross 2 heterozygotes
(Tt x Tt)
• What is the likelihood of an offspring
being homozygous dominant (TT)?
• 1/4 or 25%
• Heterozygous (Tt)?
• 2/4 or 50%
• Homozygous recessive (tt)?
• 1/4 or 25%

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 Dominant-Recessive Inheritance
Autosomal Dominant Inheritance
(strict dominance)
• Example: albinism
• Dominant allele: A (normal
pigmentation)
• Recessive allele: a (albinism)
• AA and aa are homozygous; Aa is
heterozygous
• Probability of genotypes from mating
two heterozygous parents for albinism
• Genotypic Ratios:
• 25% AA (normal pigmentation)
• 50% Aa (normal pigmentation)
• 25% tt (albinism)
• Phenotypic Ratios:
• 75% normal pigmentation
• 25% albinism
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 Dominant-Recessive Inheritance
• Predictions are just the probability of offspring inheriting a
particular genotype (and thus phenotype)
• The probabilities remain the same for subsequent offspring
• Larger number of offspring would increase likelihood of ratios
conforming to predicted values
• Example: if you toss a coin only 2 times, you may get
heads both times, but if you toss coin 1000 times, you
would probably end up with predicted probability of heads
50% of the time

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 Dominant-Recessive Inheritance
Autosomal Recessive inheritance
• Some recessive genes result in the more desirable condition
• Example: normal endochondral ossification is a recessive trait, whereas achondroplasia
(abnormal endochondral ossification is a dominant trait
• Most genetic disorders are inherited as autosomal recessive traits
• Examples: albinism, cystic fibrosis, and Tay-Sachs disease
• Heterozygotes are carriers of trait, meaning they do not express trait but can pass it on
to offspring
• Cystic Fibrosis example
• Phenotypic Ratios:
• 75% normal
• 25% cystic fibrosis

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 Dominant-Recessive Inheritance
• Incomplete dominance
• Heterozygous individuals have intermediate phenotype: they may have
symptoms, but usually not as intense as those experienced by homozygous
individuals
• Example: sickling gene
• SS = normal hemoglobin (Hb) made
• Ss = sickle-cell trait: both mutated and normal Hb are made; person
can suffer sickle-cell crisis under prolonged reduction in blood O2
• ss = sickle-cell anemia: makes only mutated Hb; person is more
susceptible to sickle-cell crisis even with short O2 reduction

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 Dominant-Recessive Inheritance

Codominance
• Equal expression of different
alleles for same gene
• Example: ABO blood type
• IA is dominant to i
• IA is recessive to i
• IA is co-dominant to IB
• If have A allele on one
chromosome and B allele on the
other, will have AB phenotype
• ii is recessive

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 Dominant-Recessive Inheritance

• Sex-linked (X-linked) inheritance

• Inherited traits determined by genes on
sex chromosomes
• X chromosomes bear over 1400 genes
(many code for proteins important for
brain function), and Y chromosomes
carry about 200 genes
• Few regions can participate in crossover
• Males will only have one copy of genes
found on X chromosome
• Genes found only on X chromosome are
called X-linked genes

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 Dominant-Recessive Inheritance
• Sex-linked inheritance (cont.)
• X-linked recessive alleles are
always expressed in males and
are never masked or damped
because there is no Y counterpart
• Females must have recessive
alleles on both X chromosomes in
order to express an X-linked
condition
• X-linked recessive conditions are
passed from mothers to sons
such as hemophilia or red-green
color blindness
• Can also be passed from
mothers to daughters, but
females require two alleles to
express

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 Dominant-Recessive Inheritance
• Pedigree
• a genetic representation of a family tree that diagrams the
inheritance of a trait or disease though several generations.
• Hemophilia was once considered the royal disease because of
its prominence in the lineage of England's royal family

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 Polygene Inheritance
• Traits that are result of actions of several gene pairs at different locations
• The more genes are involved in a trait, the more phenotypic variation will
be seen
• Results in continuous (quantitative) phenotypic variation between two
extremes
• Examples: skin color, height, intelligence, and metabolic rate

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 Carrier Recognition

• Blood tests
• Newborn screening is mandatory in US.
• Takes blood sample from newborn and screens for
more than 50 serious, treatable disorders
• Metabolic disorders such as PKU
• Genetic disorders such as sickle cell disease
• Endocrine disorders such as hypothyroidism

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 Fetal Testing

• Used only when there is a known risk of genetic

disorder because testing is invasive and risky for
both mother and fetus
• Amniocentesis
• Amniotic fluid is withdrawn after week 14 - 16; fluid
and cells are examined for genetic abnormalities
• Testing takes several weeks
• Chorionic villus sampling (CVS)
• Chorionic villi sampled at 8–10 weeks; karyotyped for
genetic abnormalities; testing can be done earlier
than amniocentesis

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 Fetal Testing—Amniocentesis and Chorionic
Villus Sampling

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