Genetic Foundations of Development

Foundations of development

• Heredity and environment

• Our focus is on heredity

The Collaborative Gene

• Human life begins with a single cell.

• Chromosomes are contained in the nucleus of each cell.

• Typical human cells contain 46 chromosomes organised into 23 pairs.

• Chromosomes are threadlike structures that contain the genetic substance deoxyribonucleic
acid (DNA).

• DNA is a complex molecule that contains genetic information.

• The double helix shape looks like a spiral staircase.

• Genes are the units of hereditary information.

• They are short segments composed of DNA.

• They help cells to reproduce themselves and to assemble proteins.

• The human genome is the complete set of developmental information for creating proteins
that initiate the making of a human organism (Hughes & Rozen, 2012).

• Human genome consists of many genes that collaborate both with each other and with non
genetic factors inside and outside the body

• The activity of genes is affected by their environment (Santrock, 2017).

Genes & Chromosomes

Mitosis

• Mitosis is the process by which each chromosome in the cell’s nucleus duplicates itself and
divides.

• Each cell contains the same DNA as parent cell

Meiosis

• Sex cells known as gametes are formed through a cell division process called meiosis, which
halves the number of chromosomes normally present in body cells (Berk, 2018).

• Sperm or ova contain 23 chromosomes, Half the DNA found in normal cells (Rathus, 2017)

Fertilisation

• During fertilisation, an egg and a sperm fuse to create a single cell, called a zygote.

• Each parent contributes half of the offspring’s genetic material

• 22 of the 23 pairs of chromosomes are matching pairs, called autosomes (Berk, 2018).

• The twenty-third pair consists of sex chromosomes.

• In females, this pair is called XX; in males, it is called XY.

• Mothers contribute an X and fathers contribute either an X to create a female or a Y to

create a male.

Sources of Variability

• Combining the genes of two parents in offspring increases genetic variability

Identical or monozygotic twins

• Develop from a single zygote that splits into two genetically identical
replicas, each of which becomes a person

Fraternal or dizygotic twins

• Develop when two eggs are fertilized by different sperm, creating two
zygotes that are genetically just like ordinary siblings
 • Mutated genes, are another source of variability.

• Mutated gene refers to a permanently altered segment of DNA (Santrock, 2021).

• People vary despite possessing identical genes due to genotype and phenotype.

• Genotype refers to all of a person’s genetic material (Santrock,2021).

• Phenotype is the external, observable characteristics e.g height and intelligence.

Genetic Principles

Dominant-recessive genes principle

• One gene of a pair always exerts its effects, overriding the potential influence of the
other gene.

• The dominant gene is more powerful, and the recessive gene is much less influential
(Berger, 2018).

• Recessive genes exert their influence only when paired with another recessive gene.

Sex-linked genes

• When a mutated gene is carried on the X chromosome, the result is called X-linked
inheritance (Santrock, 2021).

Genetic Imprinting

• Occurs when the expression of a gene has different effects depending on whether
the mother or the father passed on the gene (Santrock, 2021).

• Chemical process prevents one member of the gene pair from expressing itself

Polygenic Inheritance

• When a characteristic is the product of interaction of many different genes, it is said to be

polygenically determined.

• The term gene–gene interaction is used to describe studies that focus on the
interdependence of two or more genes in influencing characteristics, behavior, diseases, and
development.
Chromosomal and Gene Linked abnormalities

Chromosomal Abnormalities

• Children who do not inherit the normal number (46) of chromosomes experience health and
behavioral problems (Rathus, 2017).

• Risk for chromosomal abnormalities increases with parental age.

• Examples of chromosomal abnormalities include down syndrome and abnormalities of the

sex chromosomes.

Down Syndrome

• Caused by an extra chromosome on 21st pair

• Probability increases with increased age of the mother

• The child typically has a round face, a flattened skull, an extra fold of skin over the eyelids, a
protruding tongue, short limbs, and intellectual and motor disabilities.

Sex linked chromosomal abnormalities

• Occur when there is a deviation from the typical XX or XY combination of sex chromosomes.

Klinefelter Syndrome

• Disorder in which males have an extra X chromosomes, making them XXY instead of XY

• Have underdeveloped testes, enlarged breasts and become tall

Fragile X Syndrome

• An abnormality in the X chromosome, becomes constricted and often breaks.

• Can cause intellectual disability, learning disability, or short attention span

Turner Syndrome

• XO instead of XX

• A missing X chromosome in females can cause intellectual disability and sexual

underdevelopment
XYY syndrome

• Male has an extra Y chromosome

• Male secondary characteristics are heightened e.g can cause above-average height

Gene linked abnormalities

• Abnormalities produced by harmful genes.

Phenylketonuria (PKU)

• Genetic disorder in which an individual cannot properly metabolize an amino acid

called phenylalanine

• If left untreated, intellectual disability and hyperactivity result.

Sickle cell anemia

• Occurs in 1 of 400 African Americans

• Affects red blood cells and often results in early death