GENETICS AND HEREDITY

• Allele – one of two or more alternative forms of a gene that arise by mutation and are found at the
same place on a chromosome.
• Gene/genes- the basic physical and functional unit of heredity. Genes are made up of DNA. Some
genes act as instructions to make molecules called proteins.
• Gamete - are an organism's reproductive cells. They are also referred to as sex cells. Female gametes
are called ova or egg cells, and male gametes are called sperm.
• Fertilization - is the fusion of haploid gametes, egg and sperm, to form the diploid zygote.
• Trait/traits – a specific characteristic of an organism. Traits can be determined by genes or the
environment, or more commonly by interactions between them.
• Dominant - refers to the relationship between two versions of a gene. Individuals receive two versions
of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele will be
expressed; it is the dominant gene.
• Recessive - is a gene whose effects are masked in the presence of a dominant gene. ... This is also
known as being homozygous recessive.
• Heterozygous - refers to having inherited different forms of a particular gene from each parent.
• Genotype - the genetic constitution of an organism. The genotype determines the hereditary
potentials and limitations of an individual from embryonic formation through adulthood.
• Phenotype - defined as the observable and measurable characteristics of an organism as a result of
the interaction of the genes of the organism, environmental factors, and random variation.
• Dihybrid cross - describes a mating experiment between two organisms that are identically hybrid for
two traits.
 P generation - the start of Mendel's work on inheritance, or receiving genetic qualities by
transmission from parent to offspring. Basically it refers to traits or genes that are passed from a
parental generation to its offspring.
 F1 generation - the first filial generation of offspring of distinctly different parental types.
 F2 generation - the generation produced by interbreeding individuals of an F1 generation and
consisting of individuals that exhibit the result of recombination and segregation of genes
controlling traits for which stocks of the P1 generation differ.

ESSENTIAL KNOWLEDGE
Some disorders are seems to be inherited, this topic will give you deep understanding about genetics.
IV. Genetics
Genetics is the study of how traits such as hair color, eye color, and risk for disease are passed
(“inherited”) from parents to their children. Genetics influence how these inherited traits can be
different from person to person.
Your genetic information is called your genetic code or “genome.” Your genome is made up of a
chemical called deoxyribonucleic acid (DNA) and is stored in almost every cell in your body.
 Fig 13

 DNA is made of four molecules called bases, which are abbreviated as letters:
A = Adenine
T = Thymine
C = Cytosine
G = Guanine
Structure of DNA
The letters or bases are linked together to make a strand of DNA. Two strands of DNA are paired
together and form a structure called a double helix.

Adenine, A, is always paired with thymine, T.

Cytosine, C, is always paired with guanine, G.
The three-dimensional shape of a double helix looks like a twisted ladder. The paired bases (A-T and C-
G) are like the rungs of the ladder.

Fig 14: double helix

Genes are made of DNA

The language of genetics has only four letters (A,T, C, and G). These four letters are combined into three-
letter words. The words make up “genes,” which are like sentences. Each sentence has an important
meaning or story to tell. Genes provide the instructions to keep cells in your body doing their jobs.
Genes are packaged into chromosomes
DNA is organized into about 20,000 genes, and genes are packaged into chromosomes. You can think of
your entire genetic code as a set of encyclopedias, and each chromosome as a separate volume.
Normally, a person inherits half of their chromosomes from their mother and the other half from their
father.
Most people have 23 pairs of chromosomes, for a total of 46 chromosomes.

Fig 15: Chromosome

Inheritance
In genetics, the word “inheritance” refers to genes being passed on from parents to their child. There
are many ways that traits (such as eye color or risk for disease) are passed on in families.

Type of Inheritance:
1. Autosomal dominant inheritance: Traits (such as eye color or risk for disease) are passed to
your children by genes. Each person has two genes for each trait. One gene is from the mother
and one gene is from the father. Autosomal dominant inheritance refers to conditions caused by
changes (“mutations”) in genes located on one of the 22 pairs of autosomes. Autosomes are the
numbered chromosomes that are the same in all males and females. Autosomal conditions
occur in both men and women and are not related to whether a person is male or female.
 Fig 16: Autosomal Dominant Inheritance

2. Autosomal recessive inheritance: Traits (such as eye color or risk for disease) are passed to your
children by genes. Each person has two genes for each trait. One gene is from the mother and
one gene is from the father. Autosomal recessive inheritance refers to conditions caused by
changes (“mutations”) in genes located on one of the 22 pairs of autosomes. Autosomes are the
numbered chromosomes that are the same in all males and females. Autosomal conditions
occur in both men and women and are not related to whether a person is male or female.

Fig 17: Autosomal recessive inheritance

3. Inheritance of complex traits: Complex or multifactorial traits result from a combination of

multiple genetic and environmental factors (such as lifestyle choices about diet and exercise),
only some of which might be known. Accordingly, no single gene or environmental factor causes
a complex trait.
Many birth defects, such as cleft lip and cleft palate, as well as many adult disorders, such as
heart disease and diabetes, are examples of complex traits. Many complex traits are common –
generally occurring in at least 1 out of every 1000 individuals.
 Predicting an individual’s risk having a complex disease (i.e., risk of occurrence) or passing on a
complex disease (i.e. recurrence risk) is difficult because each risk factor (whether genetic or
environmental) contributes just a small part to an individual’s overall risk.

Fig 18: common example of inheritance of complex traits

4. X-linked inheritance or Sex-linked inheritance: An individual’s sex (i.e., whether they are a male
or female) is determined by the sex chromosomes. Most people have two sex chromosomes,
one that is inherited from their mother and one that is inherited from their father. Typically,
females have two X chromosomes (XX) and males have one X chromosome and one Y
chromosome (XY). Conditions caused by changes (“mutations”) in genes located on the X
chromosome are considered X-linked.
Most X-linked conditions are recessive. This means that in a person with two X chromosomes
(most females), both copies of a gene (i.e., one on each X chromosome) must have a change or
mutation whereas in a person with one X chromosome (most males), only one copy of a gene
must have a mutation. A female with a mutation in one copy of a gene on the X chromosome is
said to be a “carrier” for an X-linked condition. A male with a mutation in a gene on the X
chromosome is typically affected with the condition. Because females have two copies of the X
chromosome and males have only one X chromosome, X-linked recessive diseases are more
common among males than females. However, X-linked recessive diseases can occur in both
males and females.
For X-linked recessive disorders, an unaffected carrier mother who has a mutation in a gene on
the X chromosome can transmit either the X chromosome with this mutation or a “normal” X
chromosome to her children. If the father is unaffected, none of her daughters will be affected
and all of her daughters will be unaffected—since they will inherit at least one normal X
chromosome from their father. However, each daughter will have a 50% chance of being an
unaffected carrier like her mother and a 50% chance of both X chromosomes being normal.
Common disorders:
o Hemophilia
o Color blindness
 o Baldness

Fig 19: X-linked inheritance

Self-Help: You can also refer to the sources below to help you further understand the lesson.
https://www.my46.org/intro/what-is-genetics