GENETIC and

CHROMOSOMES
What are genes?
• A gene is a small piece of
hereditary material called DNA
that controls some aspect of a
person’s physical makeup or a
process in the body.
• Genes come in pairs
• Genes are contained in
chromosomes, which are in the
cell nucleus
Deoxyribonucleic acid- “double helix”
is the molecule that carries genetic
information for the development and
functioning of an organism.
• Humans have 20,000-25,000 genes in DNA
• Each gene contains instructions to build a
specific protein- a building block of life
NOTE: To function normally, each of our cells
depends on thousands of proteins to work
properly and at the correct time
 How do genes make proteins?

T- Thiamine There are three types of mutation that can lead to

A- Adenine a change in the genetic code: substitutions,
C- Cytosine
G- Guanine
insertions and deletions.

1. Substitution mutations occur when one of the

bases (DNA letter) has been substituted for
another, these mutations cause a single change in
the protein amino acid sequence which affects
how the protein behaves.
2. Insertion mutations occur when one or more
bases are added into the DNA sequence.
3. Deletion mutations occur when one or more
bases are removed from the DNA sequence.
Genetic Disorders
• Genetic Disorders. Sickle Cell
Disease- produce unusually shaped red blood
cells that can cause problems
• Cystic fibrosis. Cystic Fibrosis- that
causes thick, sticky mucus to build up in the
lungs, digestive tract, and other areas of the body
• Brain, Nerves and Spine.
Huntington's Disease- that causes
nerve cells (neurons) in parts of the brain to
gradually break down and die
• Cleft lip and palate. Cleft Lip and
Palate.
• The genotype (or genome) is a
person’s unique combination of
genes or genetic makeup.
• The genotype is a complete set
of instructions on how that
person’s body synthesizes
proteins and thus how that body
is supposed to be built and
function.
• The phenotype is the actual
structure and function of a
person’s body
• Is how the genotype manifests in a
person—not all the instructions in
the genotype may be carried out
(or expressed)
• Affect by the environment
(including illnesses and diet) and
other factors, some of which are
unknown.
What are chromosomes?
• are the structures inside cells
that carry genes
• Chromosomes also come in pairs
• 23 pairs of chromosomes=46
chromosomes
• Sexual Reproduction
• Each gene has a particular
location on the chromosome
(called its locus)
Pairing
• 22 pairs of nonsex (autosomal)
chromosomes and one pair of sex
chromosomes (XX and XY)
• An autosome is one of the
numbered chromosomes, as
opposed to the sex chromosomes
• The largest autosome —
chromosome 1 — has
approximately 2,800 genes; the
smallest autosome — chromosome
22 — has approximately 750 genes.
 • If the maternal and paternal alleles are the same, the offspring is
said to be homozygous for that gene
• If the maternal and paternal alleles are different, the offspring is
Allele said to be heterozygous for that gene
• Males only have one allele for each gene located on a sex
chromosome and are said to be hemizygous for that gene

• are copies of genes that influence

hereditary characteristics.
• Each person inherits at least two alleles
for a particular gene—one allele from
each parent
• When male and female gametes fuse
during fertilisation, the resulting zygote
will contain two alleles for each gene
• Exception: Males have only one allele
for each gene located on a sex
chromosome, as these chromosomes
aren’t paired (XY)
Genes come in multiple forms or versions.
Each of these forms is called an allele.
Secretes of X Chromosomes
Color blind for red and
Identical twin Not color blind
green light
Sex chromosomes
• Pair of sex chromosomes
determines whether a fetus
becomes male or female
• Males have one X and one Y
chromosome (X=mom, Y=dad)
• Females have two X
chromosomes (X=mom, X=dad)
Traits
• A trait is any gene-determined
characteristic
• Traits are determined by the
function of more than one gene
• For example:
• a person's height is likely to be
determined by many genes