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beginners
An Introduction to basic genetic
concepts and links to health for
individuals who have had minimal
experience of genetics
DNA, genes & chromosomes
p
Centromere
Chromosome 5
The Karyotype
46,XY.
FZD2
AKAP10
ITGB4
KRTHA8
WD1 Genes are arranged in linear order on
SOST chromosomes
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
Chromosome anomalies
• Cause their effects by altering the amounts of products of the
genes involved.
– Altered amounts may cause anomalies directly or may alter the balance
of genes acting in a pathway.
Classification of chromosomal anomalies
• Numerical (usually due to de novo error in cell division)
- monosomy
- trisomy
Sex chromosomes
Turner syndrome 45,X
Klinefelter syndrome 47,XXY
All chromosomes
Triploidy (69 chromosomes)
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
The DNA Double Helix
Disease-Associated Mutations
Alter Protein Function
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
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