Human body cells contain 23 pairs of chromosomes, with one chromosome of each pair inherited from each parent. Chromosomes are made of DNA and contain genes arranged in linear order that encode for proteins. Alterations in genes or chromosomes, such as changes in chromosome number like trisomies, or structural changes like deletions, can alter the amount or sequence of proteins produced and cause diseases.

1. Introduction to Genetics for
beginners
An Introduction to basic genetic
concepts and links to health for
individuals who have had minimal
experience of genetics

2. DNA, genes & chromosomes
The objectives of this presentation are to:
• Understand the role and structure of DNA, genes and
chromosomes.
• Understand that proteins are encoded by genes
• Be aware that alterations in genetic material can cause
disease

3. The structure of DNA, genes & chromosomes

4. Chromosomes
• Chromosomes are made of DNA.
• Each contains genes in a linear
order.
• Human body cells contain 46
chromosomes in 23 pairs – one of
each pair inherited from each
parent
• Chromosome pairs 1 – 22 are called
autosomes.
• The 23rd pair are called sex
chromosomes:
XX is female, XY is male.Gene for sickle cell disease
(chromosome 11)
Gene for cystic fibrosis (chromosome
7)

5. Chromosomes
p
Centromere
q
Chromosome 5

6. The Karyotype
A normal male chromosome pattern would be described as:
46,XY.
46 = total number of chromosomes
XY = sex chromosome constitution
(XY = male, XX = female).
Any further description would refer to any abnormalities or
variants found

7. Total Genes On Chromosome: 723
373 genes in region marked red, 20 are shown
FZD2
AKAP10
ITGB4
KRTHA8
WD1
SOST
MPP3
MLLT6
STAT3
BRCA1 breast cancer 1, early onset
GFAP
NRXN4
NSF
NGFR
CACNB1
HOXB9
HTLVR
ABCA5
CDC6
ITGB3
Chromosome 17
source: Human Genome Project
Genes are arranged in linear order on
chromosomes

8. Chromosome anomalies
• Cause their effects by altering the amounts of products of the
genes involved.
– Three copies of genes (trisomies)
= 1.5 times normal amount.
– One copy of genes (deletions)
= 0.5 times normal amount.
– Altered amounts may cause anomalies directly or may alter the balance
of genes acting in a pathway.

9. Classification of chromosomal anomalies
• Numerical (usually due to de novo error in cell division)
- monosomy
- trisomy
• Structural (may be due to new error in cell division or inherited)
- dosage changes (e.g. deletions) and rearrangements

10. Most frequent numerical anomalies
in liveborn
Autosomes
Down syndrome (trisomy 21: 47,XX,+21)
Edwards syndrome (trisomy 18: 47,XX,+18)
Patau syndrome (trisomy 13: 47,XX+13)
Sex chromosomes
Turner syndrome 45,X
Klinefelter syndrome 47,XXY
All chromosomes
Triploidy (69 chromosomes)

11. Summary of Chromosome Anomalies
• Change in number
e.g. trisomy 21 Down syndrome; Edwards’
syndrome; Turner syndrome.
Usually an isolated occurrence.
• Change in structure
e.g. deletions
May be inherited.
Trisomy 21

12. The DNA Double Helix

15. Disease-Associated Mutations
Alter Protein Function

16. What is a mutation?
• Mutation – an alteration or change in the genetic material
• In clinical use usually = “harmful”
• Inherited
• From exposure to mutagenic agents but more arise
spontaneously through errors in DNA replication / repair
• More likely to be recognised if effects are detrimental

17. Summary
• Human body cells contain 46 chromosomes in 23 pairs –
one of each pair is inherited from each parent
• Chromosomes are made of DNA
• Each chromosome contains genes in a linear order
• Genes are codes for cells to make proteins
• Alterations in genes or chromosomes alter the protein
produced and can hence cause disease