Chapter 2 Flashcards
The prenatal period
Prenatal development (development before birth) may have an important effect on
postnatal development (development after birth).
o Research clearly indicates that numerous prenatal and birth-related factors
may affect the later psychological development of the individual significantly.
o Society could be affected personally and emotionally on a legal, ethical, and
religious level.
Conception and Fertilisation
Human development starts when a sperm cell and egg cell unite in a fallopian
tube.
o This process is called conception or fertilisation.
o The fertilised egg is called a zygote.
Egg Cell (Ovum)
o Largest human cell, produced in ovaries.
o A female is born with ~400,000 egg cells; ~300–400 are ovulated in a lifetime.
o Ovulation happens roughly every 28 days.
o If not fertilised, the egg is expelled during menstruation.
Sperm Cell
o One of the smallest cells, produced in testes daily (~300 million/day).
o During ejaculation, 100–500 million sperm are released.
o Sperm must swim through the cervix to reach the fallopian tubes.
o Fertilisation requires only one sperm, although millions die en route.
Fertilisation Details
o The sperm penetrates the egg, leaving its tail behind.
o Cell wall hardens to block other sperm.
o A zygote is formed when the sperm and egg nuclei unite (46 chromosomes).
o Fertilisation usually happens within 24 hours of ovulation.
- Not All Zygotes Survive
o ~25% of fertilised eggs are lost early without the mother knowing.
o Another ~30% are lost in the first 3–4 weeks (miscarriages).
o Less than half of all fertilised eggs result in live births.
- Global Birth Trends
o Fertility rates are declining, especially in industrial countries.
o Over 80 countries report below-replacement birth rates (~2 children per
woman).
o Sub-Saharan Africa often exceeds 5 children per woman.
o South Africa has ~1 million births annually; birth rates vary by education and
income.
Chromosomes, genes, DNA and RNA
A new life begins as a zygote, which normally has 46 chromosomes (23 pairs).
Half come from the mother, and half from the father.
Every body cell has 23 pairs of chromosomes. But sex cells (sperm and egg) each
have 23 single chromosomes.
Chromosomes are tiny, rod-shaped structures seen under a microscope.
Each chromosome contains genes, which are the smallest units of heredity and carry
human traits. Chromosomes and genes consist primarily of a complex chemical
substance known as deoxyribonucleic acid or DNA.
The DNA produces another nucleic acid for this purpose, known as ribonucleic acid
or RNA. RNA can circulate more freely, transfers the blueprint information from the
cell nucleus to the cytoplasm (the substance that makes up a cell, not including the
cell nucleus) and in so doing, directs the construction of proteins.
Genome: all the genetic material of an organism
Cell division
- The process of cell division is a crucial step in the formation of a new life.
- The body cells (or somatic cells) in the zygote divide through the process known as
mitosis. The goal of mitosis is to duplicate one cell into two genetically identical cells. - Meiosis is the process that divides germ cells to form sex cells (sperm and egg).
o Before it starts, a preparation phase (like in mitosis) happens.
o Meiosis reduces the number of chromosomes from 46 to 23.
o It happens in two stages (meiosis I and II), each with four phases.
o The chromosome pairs separate and move to opposite sides of the cell.
o The result is sex cells (gametes) with 23 chromosomes, formed in the testes
(males) or ovaries (females). - Crossover
o During the first stage of meiosis, a crossover happens.
o Homologous chromosomes (chromosomes that form a pair) swap segments of
genetic material (therefore, also genes).
o This creates genetic variation, making each sex cell unique.
Gene dominance and recessivity
- Two genes on each pair of chromosomes are jointly responsible for determination of
hereditary characteristics (gene pair – allele) - Homozygous vs heterozygous gene pairs
o Homozygous: A gene pair where both alleles (gene versions) are the same.
o Heterozygous: A gene pair where the two alleles are different. - Dominant gene: Dominates the other allele in determining observable characteristics
(phenotype) - Recessive gene: Not dominant, not observable in phenotype, yet still part of genotype
(genetic make-up) - Genotype: underlying genetic make-up
Dominant vs recessive genes
dark hair vs light
normal hair vs baldness
curly vs straight hair
non red hair vs red hair
dimples vs no dimples
normal hearing vs some form of deafness
normal vision vs near sightedness
farsightedness vs normal vision
normal vision vs eye cataracts
normally pigmented skin vs albanism
normal joints vs double jointedness
type A blood vs type O blood
type B blood type vs O blood
Rh-positive blood vs Rh-negative blood
Diseases
Phenylketonurla (PKU)
Sickle cell anaemia
Huntingtons disease
Haemophilla
Phenylketonurla (PKU)
inability to metabolise the amino acid phenylalanine, contained in many proteins, caused sever central nervous damage in the first year of life
recessive
medical intervention results in average intelligence and normal life span, subtle difficulties with planning and problemsolving often present
Sickle cell anaemia
distortion red blood cells causes oxygen deprivation, pain, swelling and tissue damage
Anemia and susceptibility to infections, especially pneumonia, occur
Reccessive
no known cure, 50% die by age 20
Huntingtons disease
Central nervous system degeneration leads to muscle coordination difficulties, mental deteriation and personality changes. Symptoms usually occur after 35
Dominant
No known cure, death after 10-20 years after symptom onset
Haemophilla
Blood fails to clot normally. May lead to severe internal bleeding and tissue damage.
Recessive
Blood transfusions and safety precautions can ensure a relatively good life quality
Sex determination, sex-linked characteristics and polygenic inheritence:
- Gender is not determined by a gene but by a gamete (sex chromosome).
- Sex chromosomes play a role in other hereditary characteristics.
- Women have two similar X chromosomes & while men have one X chromosome and
one smaller Y chromosome. - The dad’s sperm determines the child’s sex.
- The chances of the child being a boy or a girl are theoretically equal.
- The sex chromosomes also have genes that play a role in other hereditary
characteristics. These characteristics are known as sex-linked characteristics. Several
of these characteristics are found more frequently in men than in women. - Recessive diseases and disorders: red-green colour blindness, baldness, and certain
forms of muscular dystrophy.
o Haemophilia: inability of blood to clot, resulting in continued bleeding, even
from a small wound. Haemophilia can be caused by a recessive gene on one of
the X chromosomes of the mother. If she transmits the X chromosome with the
recessive gene to her son, the Y chromosome that he has inherited from his
father will not have the dominant gene and will thus not be able to dominate or
counteract the haemophilia.
- Polygenic inheritance
o Most characteristics determined by interaction between genes
- Genetic abnormalities
o Many disabilities and diseases are products of recessive alleles
Multiple births
- Factors that may increase the prevalence of twins are a family history of twins, high
maternal age, race, and a large maternal size - The main factor that increases the chances of having a multiple pregnancy is the use
of infertility treatment, - Monozygotic (identical twins)
o Zygote divides into 2 or more separate entities after ovum has been fertilised
by the sperm - Dizygotic (non-identical twins)
o Develop out of different ova
o Woman releases two or more ova, which are then fertilised by different sperm
Genetic abnormalities
Rare occurrence:
South Africa.
Only 2% to 3% of live births show significant genetic defects — both globally and in
“Genetic abnormalities are the exception, rather than the rule.”
Two main types:
1. Gene abnormalities – caused by faulty genes (like a misspelled word).
2. Chromosomal abnormalities – due to abnormal chromosome numbers.
Gene Abnormalities:
Caused by mutated or faulty genes, which may lead to incorrect biological
instructions.
Some are sex-linked (e.g., Haemophilia).
Others are ethnically linked due to inherited mutations from ancestors (progenitors).
Examples of Ethnically Linked Gene Abnormalities:
Porphyria:
Common among Afrikaners — causes skin blisters/scars in sunlight.
Tay-Sachs disease:
Affects Jewish communities — fatal brain/spinal cord disorder, death before age 5.
Albinism:
Common in black South Africans — absence of skin/hair/eye pigmentation,
sensitivity to light.
Thalassemia:
Among South African Greeks and Italians — causes anaemia (low red blood cells).
Not all gene abnormalities are related to sex or ethnicity.
Chromosomal Abnormalities:
Caused by abnormal chromosome composition (extra or missing chromosomes).
Most common: Down Syndrome (Trisomy 21)
o An extra chromosome at the 21st pair: 47 chromosomes instead of 46.
o Physical features: flat face, small ears, epicanthal eye fold, low muscle tone,
short physique.
o Cognitive/social challenges: delayed milestones, learning difficulties,
emotional regulation issues.
o Mosaic Down Syndrome: Some cells have 46 chromosomes, others have 47.
Detection Methods:
Amniocentesis:
o Performed between 15 and 20 weeks of pregnancy.
o Uses a needle to extract amniotic fluid for analysis.
o Guided by ultrasound.
o May help parents decide whether to continue or terminate the pregnancy in
cases of serious defects.
“Although helpful, not all abnormalities can be detected prenatally.”
The prenatal stages
Conception to birth
* The prenatal period is divided into three stages: the germinal stage, the embryonic
stage, and the foetal stage.