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Lesson 2: Genetics and Human Reproduction

_______________
Are basic units of heredity that determine both the physical and
cognitive characteristics of people
CHROMOSOMES
___________________________________________
DNA (Deoxyribonucleic acid)
Is a nucleic acid that contains the genetic instructions specifying the
biological development of all cellular forms of life
Human Genome
Most human cells contains 46 chromosomes (44autosomes and 2 sex
chromosomes)
Except for ovum and sperm which has only half of the chromosome
number
For each chromosome in a sperm cell, there is a like (___________)
chromosome of similar size, shape and function in the ovum except
for one that determines gender
If the sex chromosomes are both X in the zygote, the individual is a
female
If one the sex chromosomes is X and the other one is Y, the individual
is a male

GENOTYPE
Actual gene composition

PHENOTYPE
Refers to a persons outward appearance or expression of genes. For
example, hair color, weight or the presence or absence of a disease

DOMINANT
A dominant allele is expressed even if it is paired with a recessive
allele

RECESSIVE
A recessive allele is only visible when paired with another recessive
allele

MENDELS 1st Law

two members of a gene pair segregate from each other into the
gametes, so half the gametes carry one member of the pair and
the other half carry the other member of the pair

HOMOZYGOUS GENES
two like genes from each parent
Ex: 2 genes of blue eyes or brown eyes for each mother and father
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Lesson 2: Genetics and Human Reproduction
HETEROZYGOUS GENES
Genes are different
Ex: 1 gene of blue eyes and 1 gene of brown eyes for each of the
mother and father

MEDICAL GENETICS
When studying rare disorders, 5 general patterns of inheritance
are observed:
o ____________________________
The disease appears in male and female children of
unaffected parents.
Ex. cystic fibrosis
o ____________________________
Affected males and females appear in each
generation of the pedigree.
Affected mothers and fathers transmit the
phenotype to both sons and daughters.
Ex. Huntington disease.
o ____________________________
Many more males than females show the disorder.
All the daughters of an affected male are carriers.
None of the sons of an affected male show the
disorder or are carriers.
Ex. hemophilia
o ____________________________
Affected males pass the disorder to all daughters but
to none of their sons.
Affected heterozygous females married to unaffected
males pass the condition to half their sons and
daughters
Ex. fragile X syndrome
o ____________________________
Two different versions (alleles) of a gene can be
expressed, and each version makes a slightly
different protein
Both alleles influence the genetic trait or determine
the characteristics of the genetic condition.
Ex. Sickle cell Anemia
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Lesson 2: Genetics and Human Reproduction

____________________________
Conception (old term: fecundation)
It is the union of mature ovum and sperm cell
Occurs in the outer 1/3 of fallopian tube, the ampullar portion

The Sperm
After semen is ejaculated, the sperms reach the cervix by their own
motility within seconds leaving behind the seminal plasma in the
vagina
The sperms reach the tube within 30-40 minutes
But they are capable of fertilization after 2-6 hours.
This period is needed for sperm capacitation.
Average semen ejaculation = 2.5 ml of fluid containing 50- 200
million spermatozoa per ml / 400 million per ejaculation

The Ovum
The ovum leaves the ovary after rupture of the Graafian follicle,
carrying 23 chromosomes and surrounded by the _________________
and __________________________
Only 1 ovum reaches maturity each month.
Capable of fertilization for 24- 48 hrs

Chronological Order of Human Reproduciton

Oh -ZeeMyBabyEatsFast!!!
O___________ -
Z___________-
M__________ -
B___________-
E___________-
F___________-

Implantation
Once fertilization is complete, the zygote migrates toward the body of
the uterus, aided by the current initiated by the muscular contractions
of the fallopian tubes.
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Lesson 2: Genetics and Human Reproduction
It takes 3-4 days for the zygote to reach the body of the uterus

Embryonic and Fetal Structures

The Decidua (Uterine Lining or Endometrium of Pregnancy)

o The endometrium is now termed decidua because it will be
discarded after the birth of the child.
o 3 separate areas of decidua
1. __________________________
2. __________________________
3. __________________________

Chorionic Villi
o Trophoblastic layer of the Blastocyst forming miniature
villi at 11-12th day with the following areas
a. Central Core contains of fetal capillaries
b. Outer covering has 2 layers:
- _________________________________
- _________________________________
The Placenta
o Latin for ___________________________,
o Its growth parallels that of the fetus, growing from a few
identifiable cells at the beginning of pregnancy to an organ 15
to 20cm in diameter & 2-3 cm in depth, at term
o 400-600 gm = 1/6 of total weight of fetus
o Placental Process
Selective Osmosis
Diffusion
Respiratory System
Gastrointestinal system
Excretory System
Circulatory system
Endocrine System
PLACENTAL HORMONE
1. Human Chorionic Gonadotropin (HCG)
2. ESTROGEN
3. PROGESTERONE
4. HUMAN PLACENTAL LACTOGEN (HPL / Human
somatomammotrophin)

The Amniotic Membranes

o Chorionic membrane
o Amniotic Membrane

The Amniotic Fluid

o is constantly be being formed & re absorbed so it never
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Lesson 2: Genetics and Human Reproduction
stagnant
o continuously swallowed by the fetus, absorbed in the fetal
intestine into the fetal blood stream
o At term, amount ranges from 800-1,200ml
Hydramnios
Oligohydramnios
o Early in fetal life, as soon as the fetal kidneys become active,
fetal urine adds to the quantity of the amniotic fluid

The Umbilical Cord

o formed from the amnion & chorion
o provides a circulatory pathway connecting the embryo to the
chorionic villi
o Function is to transport O2 & nutrients to the fetus from the
placenta & to return waste products from the fetus to the
placenta.
o is about 53cm (21 in) in length at term, about 2cm (3/4 in)
thick
o Contains 1 vein , 2 arteries
o bulk of the cord is gelatinous mucopolysaccharide called
Whartons jelly, which gives the cord body & prevents pressure
on the vein & arteries.
o blood can be withdrawn from the umbilical vein during
intrauterine life for fetal assessment or treatment
o Arteries of the cord is abundant in smooth muscle, constriction
of this after birth contributes to homeostasis & helps prevent
hemorrhage of the newborn through the cord
o Because the cord has no nerve supply, it can be cut at birth
without discomfort to the child or mother

The Development of Organs

o Growth and development occur in cephalocaudal directions
o Primary germ layers
o Ectoderm
CNS (brain/spinal cord peripheral nervous system
skin, hair, nails sebaceous glands and sense organs
Mucous membranes of the anus, mouth, nose
Tooth enamel
Mammary glands
o Mesoderm
Supporting structures (bones, muscle, tendons) dentin
of teeth
kidneys & ureters and reproductive system
Heart, circulatory system
Lymph vessels
o Endoderm
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Lesson 2: Genetics and Human Reproduction

Lining of pericardial, pleural, peritoneal cavities

Lining of GIT, respiratory tract, tonsils, parathyroid,
thyroid
Thymus
Lower GUT (bladder, urethra)

VIABILITY
Capability of fetus to survive outside uterus at the earliest gestational
age - 20 weeks
Survival depends on: Maturity of fetal central nervous system
Maturity of lungs
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Lesson 2: Genetics and Human Reproduction
FETAL DEVELOPMENTAL MILESTONES

End of 4th week - germ membranes appear by the 2nd week

- fetal membranes appear by t2nd week
- nervous system appears by the 3rd week
(dizziness is said to be the earliest sign of pregnancy because of the depletion
of the mothers glucose which the embryo needs for the proper brain
development.
Hypoglycemia therefore is the cause of dizziness
- all systems in rudimentary from; heart chambers formed and heart is beating.
- embryo length= 0.4cm; weight= 0.4g.
End of 8th week - some distinct features in face; head large in proportion to rest of body; some
movement
- all vital organs are formed by the 8th week (organogenesis)
- placenta develops
- sex organs (ovaries/testes) are formed by the 8th week
- external genitalia present but not discernible
- meconium is formed by 5th to 8th wk visible on ultrasound
- length = 2.5cm, weight = 2g

End of 12th week - heart beat audible by Doppler

- sex distinguishable
- ossification in most bones
- kidneys secrete urine; able to suck and swallow
- length= 6-8cm, weight= 19g.

End of 16th week - heart beat audible by fetoscope

- meconium in bowel
- scalp hair develop
- lanugo (finely downy hair on the body) appears
-buds of permanent teeth form
- rapid skeletal development visible on x-ray
- sex differentiation is completed
- length =11.5-23.5cm., weight =55 to 120 gms
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Lesson 2: Genetics and Human Reproduction
End of 20th week - vernix caseosa appear
- lanugo covers entire body
- quickening movement usually felt by mother occurs;
- heart rate audible
- bones hardening
- length = 16-18.5cm., weight= 300g

End of 24th week - start of fetal viability,

- passive antibody transfer from mother to fetus
- body well proportioned; skin red and wrinkled
- hearing established
- length = 23cm., weight = 600g.

End of 28th week - surfactant demonstrable in the AF

- testis descends into the scrotal sac
- infant viable, but immature if born at this time.
- body less wrinkled;
- appearance of nails.
- length= 27cm., weight=1100g

End of 32nd week - delivery position assumed

-subcutaneous fat begin to deposit
- L/S ratio in lungs now 1.2 : 1.
- skin smooth and pink.
- length =31cm., weight = 1800-2100g.

End of 36th week - amount of lanugo diminish

- sole of the foot with creases
- body usually plump;
- L/S ratio usually 2:1;
- definite sleep/wake cycle.
- length = 35cm., weight= 2200-2900g

End of 40th week - full term pregnancy

- baby is active, with good muscle tone
- strong suck reflex
- if male testes in scrotum;
- Little lanugo
- length= >40 cm., weight= 3200g or more