Genetics and Antenatal Development

1
 Terminology for Genetics
One The Genes are
The There is a Each
Chromoso- Chromoso- segments
human nucleus nucleus
me of every mes of DNA that
body inside each contains 46
pair is from are filled contain
contains human cell Chromos-
each with tightly instructions to
100 (except red omes,
parent. coiled make
trillion blood cells). arranged in
strands of proteins— the
cells. 23 pairs.
DNA. building
blocks
of life.

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 Cells, Chromosomes, Genes, and DNA

The body contains

trillions of cells

Nucleus (center
of cell) contains
chromosomes A gene, a segment
and genes of DNA (spiraled
Chromosomes are double chain)
threadlike structures containing the
composed of DNA hereditary code
molecules

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Figure 3.3
 Terminology for Genetics
• ALLELE – genes that produce alternative
characteristic for a specific trait.
• HETEROZYGOTE - an organism with two
different alleles of a particular gene.
• HOMOZYGOTE - an organism receives
the same two allele of a particular gene.
• RECESSIVE - an allele that is not
expressed in a heterozygous organism.
• DOMINANT - an allele that is expressed
in a heterozygous organism.

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• Genotype: Set of genetic traits a
person inherits; a person’s inborn
capacity or potential "internally
coded, inheritable information"
(genetic blueprint).
• Phenotypes: observable or
physical characteristics such as
height, body style and psychological
characteristics like personality and
intelligence "outward, physical
manifestation"

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• The Genetic Code: stored
on one of the two strands of a
DNA molecules as a linear,
non-overlapping sequence of
the nitrogenous bases
Adenine (A), Guanine (G),
Cytosine (C) and Thymine
(T). These are the "alphabet"
of letters that are used to
write the "code words".

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There are two major categories of
chromosomal abnormalities:

1. Irregular number of chromosomes

2. Structural modification in a chromosome

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The Process of Meiosis for Sperm Cells

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The Process of Mitosis

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 Chromosomal Abnormalities
• Nondisjunction abnormalities:
– occurs in the meiosis cell division (where no. of
chromo. are reduced to half).
– Abnormality may occurs if uneven division
(nondisjunction) occur (one sperm or ovum with
22 & the other with 24 chromosome)
– If one of these defective cells fuses with normal
sperm or ovum, the zygote will have higher or
lower chromo. no. (trisomy 21-down syndrome
47 chromosome or monosomy-45 chromosome
as in turner’s syndrome (characterized by short
stature and the lack of sexual development at
puberty)).
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 Chromosomal Abnormalities:
Downs Syndrome

• An extra chromosome # 21
(3 copies)
• Also referred to as Trisomy
21
• Slow development, flat
face, slanted eyes,
intelligence varies greatly
• 50% of children die before
age 1
• Karyotype tests can predict
the disorder but not its
severity khulood shattnawi 12
Chromosomal Abnormalities: Turner’s
syndrome

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• Deletion Abnormalities:
– part of a chromosome breaks during cell division
causing a person with a normal no. of chromo.
plus/minus a portion of a chromosome ( cat’s cry
syndrome (46XY5q-) portion of chromosome 5 is
missing.

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• Translocation Abnormalities:
– The affected person has parents carrying the
abnormality. Parents have normal number of
chromosomes but there is a chromosome
misplaced and attached abnormally to
another chromosome.

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Exchange of chromosomal material between the wrong
chromosomes. If this exchange breaks a gene, this person will have
a genetic disease. However, if the amount of genetic material present
is the same as with normal individuals, the person is balanced and
normal. However, the sperm or eggs of these individuals can carry
the reciprocal translocation chromosome and are at increased risk of
producing an embryo with an abnormal amount of genetic material

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• Mosaicism:
– Abnormality in the mitosis division (daughter
cell).
– The nondisjunction occurs after fertilization of
the ovum as the structure begins. This
abnormality made different cells in the body
have different chromosome no.
– Chromosomal abnormalities do not always
show up in every cell

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 Mendel’s 1st Rule
The Law of Segregation:
• For each trait an individual
has 2 genes (factors)
• The 2 genes may be the
same or different
• When making kids, each
parent will contribute only
1 gene
• The 2 genes a parent has
will separate when making
a kid. khulood shattnawi 19
 Patterns of inheritance

• Autosomal dominant inheritance

• Autosomal recessive inheritance
• Incomplete Dominance
• Sex-Linked (X-linked) Inheritance

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Dominant-Recessive Inheritance

• Reflects the interaction of dominant and

recessive alleles
• Punnett square – diagram used to
predict the probability of having a certain
type of offspring with a particular
genotype and phenotype

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Autosomal dominant inheritance
• children have usually inherited the
disorder from an affected parent
• 2 persons with a dominantly
inherited disorder are unlikely to
choose each other, if they did: 75%
of their children are affected.
• The homozygous trait is probably
incompatible with life.
• Examples of dominant disorders:
achondroplasia (type of dwarfism)
and Huntington’s disease (a
hereditary disorder with a mental
and physical deterioration that
leading to death)

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Inheritance of a Dominant Gene Disorder

Affected Parent
(Has the Disorder)
D r

Dr rr
r Affected normal
(25%) (25%)

Normal Dr rr
Father r Affected normal
(25%) (25%)

(50%) (50%)
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 Autosomal recessive inheritance:
• Most common form.
• Such disorders do not occur
unless two genes for the
disease are present (e.g:
cystic fibrosis, thallasemia,
albinism).
• Children with the disorder
will always be homozygous
for the trait.
• Parents will both be
carriers. 24
Inheritance of a Recessive Gene Disorder

Carrier Mother
D r

DD Dr
Normal Carrier
D
(25%) (25%)
Carrier
Father
Dr rr
Carrier Affected
r (25%) (25%)

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 Incomplete Dominance
• Heterozygous individuals have a phenotype
intermediate between homozygous dominant
and homozygous recessive
• Sickling gene is a human example when
abnormal hemoglobin (Hb) is made from the
recessive allele (s)
SS = normal Hb is made
Ss = sickle-cell trait (both normal
and abnormal Hb is made)
ss = sickle-cell anemia (only abnormal
Hb is made)

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 Sex-Linked Inheritance
• Inherited traits determined by genes on the sex
chromosomes
• X chromosomes bear over 2500 genes; Y
chromosomes carry about 15 genes
• X-linked genes are:
– Found only on the X chromosome
– Typically passed from mothers to sons
– Never masked (no carriers) in males since there is
no Y counterpart

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• Sex-linked genes:
– X-linked diseases and mutations
such as hemophilia and fragile-X
syndrome
– Females have a second X
chromosome so chances of
having mutation or disease are
less, BUT they are carriers of it
– Males have no second chance;
more males than females have X-
linked diseases

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Inheritance of Hemophilia, a Sex-Linked Disorder

Carrier Mother
X X

XX XX
Normal Carrier
X Daughter Daughter
(25%) (25%)
Normal
Father
XY XY
Normal Hemophilic
Y Son Son
(25%) (25%)
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 Periods of Fetal Development
• Pre-embryonic period:
– Extend from the fertilization of the ovum to
the formation of the embryonic disk with
three germ layers- week 1 through week 3.
• Embryonic period:
– Period of rapid growth and differentiation,
organogenesis- week 4 through week 8.
• Fetal period:
– Further growth and development of organ
systems- extends from week 9 to term.
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 Conception
Chromosomes join & form zygote

Sperm attaches & penetrates ovum

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Gametes and Zygote

Sperm

Sperm

Ovum

Gametes Fertilization Zygote

(reproductive cells)

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 First week: Zygote.
• 30 hours after fertilization, the first cleavage
occurs (rapid mitotic cell division, but these
do not increase the size of the zygote)
• 12 to 16-cell stage at about 60 hours----
Morula
• 4-5 days a cavity forms in the center:
Blastocyst
• Nidation (implantation) occurs 6-7 days after
conception.
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 Implantation occurs approximately
After fertilization, the 12 to 16-cells stage is called Morula
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6 – 8 days after fertilization 34
 Embryonic Disc
• The embryonic disc containing the
ectoderm, mesoderm and endoderm
germ layers is located between cavities

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Origin of Body Tissues and Organs
Ectoderm (outer Mesoderm Endoderm (Inner
layer) (Middle layer) layer)
Sensory, epithelia Connective tissue Lining of urethra
of ear, eye. and ear
Epidermis. Dermis GI tract
Hair, nails. Bones, cartilage Liver, pancreas
Central nervous Gonads, uterus Tonsils
system
Cranial nerves. Muscles Thyroid
Urethra Kidneys, ureters Urinary bladder
Upper pharynx and Heart Pharynx
nasal passages
Enamel of teeth Dentine of teeth Trachea and lungs
Peripheral nervous Spleen, blood parathyroid
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system
• Implantation can also occur in uterine
tube, cervix, or the abdominal cavity.

• Implantation anywhere outside the

uterus is called an ectopic pregnancy.

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 Embryonic Development

• Conception-2
weeks: Zygote
– about half survive this
stage
– rapid cell
differentiation
– ~ 10 days outer part
of zygote attaches to
uterine wall; placenta
develops
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 Embryonic Development

• First month (0- 4

weeks after
conception)
– Wt. is 400mg, Ht. is 1
cm.
– Limb buds are present
– Organs start to form
– Heart pumps blood
– C-shaped body.
– Head is 1/3 of entire
body. khulood shattnawi 39
• Second month (5- 8
weeks)
– Formation of head and
facial features.
– Skeleton is visible.
– Organogenesis is
complete.
– Eyes formed and open
– Extremities have
developed
– Wt 1 gm, Ht is 2.5cm.

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• Third month (9- 12 weeks)
– Teeth begin to appear.
– Kidneys begin to function
– Some respiratory-like
movements.
– Begin to swallow amniotic
fluid.
– Grasp, sucking, blinking and
withdrawal reflexes present.
– Gender could be
distinguished, but very
difficult.
– Weight 30 gm.
– Sleeping and activity
patterns are distinguishable
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• Fourth month (13-
16 weeks)
– Much spontaneous
movements.
– Moro reflex present.
– Rapid skeletal
development.
– Meconium present.
– Downy hair (lanugo)
appears on body.
– Weight 120 gm.
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Fifth month (17- 20 weeks)
• Mother usually feels
movement (quickening)
• Vernix caseosa appears.
• Eyebrows and hair appear.
• Strong grasp reflex present.
• Permanent teeth buds
appear.
• Brown fat is formed.
• Gender easily distinguished
• Heart sound can be heard
with stethoscope.
• Weight 360gm.
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• Sixth month (21- 24
weeks)
– Extra uterine life possible.
– Begin to produce
surfactant.
– Skin has red wrinkled
appearance.
– Alternative periods of
sleep and activity.
– May respond to external
sounds.
– Weight 720 gm.

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• Seventh month
(25- 28 weeks):
– Respiratory and
central nervous
system sufficiently
developed.
– Eye lids open and
close
spontaneously.
– Assumes head-
down position in
uterus.
– Weight 1200 gm.
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• Eighth month (29- 32
weeks):
– Begins to store fat
and minerals.
– Testes descend into
scrotal sac.
– Lanugo begins to
disappear from face.
– Skin begins to lose
reddish color.
– Weight 2000 gm.
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• Ninth month (33-
36 weeks):
– Increased iron
storage by liver.
– Increased
development of
lungs.
– May become more
or less active due to
space tightness.
– Weight 2800 gm.
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Factors that affect development
• Chromosomal factors
• Developmental factors
– Teratogens
– Drugs
– Maternal Nutrition
– Maternal disease
– Stress
– Fetal factors

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 Teratology
• Teratogens
– Any agent that causes a birth defect
• Variables affecting influence of
teratogens
– Timing of exposure Embryonic period.
– Intensity & duration of exposure

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 Teratogens and Timing of Their
Effects on Prenatal Development

Zygote Embryonic period (wks) Fetal Period (wks)

1 2 3 4 5 6 7 8 9 16 32 38

Most Central nervous system

serious Heart
damage Arms
from Eyes
teratogens
in first Legs
2-8 wks Ears
Teeth
Period of susceptibility Palate
to structural defects
External genitalia
Period of susceptibility
to functional defects
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Fig. 4.4
• Teratogens:
– Viruses:
• Rubella- most serious if exposed
between 4-8 weeks;

• HIV- 20-50% may pass on virus

prenatally or during delivery

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 Prescription Drugs
• Thalidomide – sedative used in early 1960s
– Infants with severe defects
• Diethylstibestrol (DES) – used to prevent
miscarriages
• Antibiotics (streptomycin, tetracycline)
• Some depressants
• Certain hormones (progestin, synthetic
estrogen)
• Accutane

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 Illegal Drugs
• Cocaine

• Marijuana

• Heroin

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 Environmental Hazards
• Radiation: nuclear environments,
X-rays, computer monitors

• Chemicals: carbon monoxide,

mercury, lead, pesticides.

• Heat: saunas, hot tubs 54

 Alcohol and Pregnancy

• Fetal alcohol effects (FAE); more severe

form (FAS)

• Fetal Alcohol Syndrome (FAS)

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 Nicotine
• Higher fetal and neonatal deaths
• Higher incidence of preterm births and
lower birth weights
• Related to poorer language development
& cognitive development by age 4
• Respiratory problems and SIDS are more
common

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 Nonprescription Drugs
• Diet Pills

• Aspirin

• Caffeine

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 Maternal Age
• Adolescence
• Older mothers

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 Domestic Violence
• Twice the miscarriage rates

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 Nutrition
• Important factors of nutritional status are
– total number of calories
– levels of protein, vitamins, and
minerals
– folic acid –

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 Effects of Stress on Pregnancy

• Linked to spontaneous abortion,

• difficult labor,
• premature birth,
• low birth weight,
• newborn respiratory difficulties

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 Paternal Factors
• Exposure to lead, radiation, certain pesticides,
and petrochemicals may cause abnormalities in
sperm that lead to miscarriage or disease.
• Diet low in vitamin C, increases risk of birth
defects and cancer.
• Connection between cocaine use in fathers and
birth defects.
• Fathers’ smoking during pregnancy may lead to
lower birth weight and potential for their
offspring developing cancer.
• Older fathers have higher risk for birth defects
(e.g., Down syndrome & dwarfism.
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