HUMAN GENETICS
DMI alliangana, MPhil.
Department of Medical Physiology,
School of Medicine,
Moi University
GENETICS
What is genetics?
• Is the science of heredity and its variation.
- Study of how traits are passed from one
generation to the next
SOMATIC VERSUS GERMLINE CELLS
Somatic cells comprise the majority of an
individual’s body.
• During development distinct types of cells
make proteins using different subsets of genes.
Germline cells within the testis or ovary produce
gametes (sperm or ovum)
• Germline cells retain the ability to form all of
the types of cells, both germline and somatic cells.
Together somatic cells and germline cells
comprise the entire body of an individual.
GENOME
The complete set of genetic information
characteristic of the organism.
The genome includes:
• All of the genes present in an organism
• All of the genes present in an organism and
Other DNA sequences that do not encode genes
THE HUMAN GENOME
• Consists of 3 billion base pairs of DNA
• Includes 28,000 to 34,000 genes
• Is organized as 23 pairs of chromosomes
INDIVIDUALS
Individuals carry two alleles of each gene.
Genotype is the combination of alleles that an
individual possesses.
Phenotype is the visible trait that results from a
particular genotype
Family
Inheritance of traits can be observed in families.
A pedigree indicates the structure of a family
schematically.
POPULATION
A population is a group of interbreeding
individuals
who possess a particular collection
of alleles or “gene pool”.
SPECIES COMPARISONS
comparison of dna sequences indicates the
amount of similarity between two species.
98% of human dna sequences are shared with
chimpanzee.
many genes present in humans are also
present in mice, fish, fruit flies, yeast, and
bacteria.
GENES
• Are the basic
structural and
functional unit of
genetics
• Are sequences of
nucleotides in DNA
• Control cells by
directing protein
synthesis
GENES ARE DNA
• Genes are the basic unit of inheritance.
• Genes are composed of DNA (deoxyribonucleic
acid)
• Genes direct the formation of proteins.
Different versions of the same gene are called
alleles.
Alleles result from the process called mutation.
All genes are nucleic acids (RNA and DNA)
NB
but not all nucleic acids are genes
THE GENETIC MATERIAL - DNA
(DEOXYRIBONUCLEIC ACID)
Double Helix
• Composed of Nucleotide
subunits
• Nucleotides are composed of
• Deoxyribose (sugar)
• Phosphate group
• Bases:
A (Adenine), T (Thymine)
G (Guanine) or C (Cytosine)
THE GENETIC CODE IS
UNIVERSAL
• Sequence of nucleotides determines
how the protein is produced from
the gene
• Mutations are changes on the DNA
CHROMOSOMES
• Genes are found
in the nucleus
• Arranged on
chromosomes
GREGOR MENDEL & MONK
• Conducted experiments (x-bred) or
transmitted traits in peas
• demonstrated the Principles of Inheritance
APPROACHES
1. Transmission Genetics
2. Pedigree Analysis
3. Cytogenetics
4. Molecular Genetics
5. Population Genetics
PEDIGREE ANALYSIS
• Family history is
used to construct
the pattern of how
a trait is passed
from generation to
generation
CYTOGENETICS
• Studies chromosome
number and
structure
MOLECULAR GENETICS
• Uses recombinant DNA technology to
identify, isolate, clone, and analyze
genes
• Tremendous impact in the last 40 years
• Debate over social, legal and ethical
issues
POPULATION GENETICS
• Identifies how much genetic variation exists in
populations
– Investigates factors, such as migration, population
size, and natural selection, that change the
frequency of a specific gene over time
• Coupled with DNA technology, investigates
evolutionary history and DNA identification
techniques
Exercise Brain Teasers
1. What is a gene? unit of heredity, residing at a specific point on a
chromosome; a length of DNA that specifies a product
2. What is a chromosome? condensed, linear DNA and protein,
containing genes and intervening sequences - genes are organized
into chromosomes
3. Name one well-known geneticist: Gregor Mendel
4. Who won the 2001 Nobel Prize in Medicine? Lee Hartwell, Paul Nurse,
Tim Hunt
5. What was their scientific contribution? Discovery of genes and regulatory
molecules that control the cell cycle
6. What does it mean to be diploid? 2n, having 2 copies of each chromosome
7. What would happen without meiosis? Polyploid embryos, no functional
gametes, no genetic variation
8. Where does transcription occur in a cell? nucleus
9. What are 2 applications of genetics you are
interested in learning more about? many suggested cloning, gene therapy,
stem cells, genetically modified foods
