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Transcript of Http:// 0e9g Bell Ringer #1 Think about your family for a moment. What physical characteristics or...
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http://www.youtube.com/watch?v=ToAozF30e9g
Bell Ringer #1Think about your family for a moment. What physical characteristics or traits do you share with your family members?
What personality characteristics do you share with some of your family members?
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Introduction to Genetics for beginners
An Introduction to basic genetic concepts and links to health for individuals who have had minimal experience of
genetics
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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 genesBe aware that alterations in genetic material can
cause disease
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The structure of DNA, genes & chromosomes
Genes are a set of coded instructions that code for a specific trait!
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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)
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Chromosomes
p
Centromere
q
Chromosome 5
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The Karyotype
A normal male chromosome pattern would be described as:
46,XY.
46 = total number of chromosomesXY = sex chromosome constitution
(XY = male, XX = female).
Any further description would refer to any abnormalities orvariants found
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Total Genes On Chromosome: 723373 genes in region marked red, 20 are shown
FZD2AKAP10ITGB4KRTHA8WD1SOST
MPP3
MLLT6
STAT3
BRCA1breast cancer 1, early onsetGFAPNRXN4NSF
NGFR
CACNB1HOXB9HTLVRABCA5CDC6ITGB3
Chromosome 17source: Human Genome Project
Genes are arranged in linear order on chromosomes
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Most frequent numerical anomalies in liveborn
AutosomesDown syndrome (trisomy 21: 47,XX,+21)
Edwards syndrome (trisomy 18: 47,XX,+18) Patau syndrome (trisomy 13: 47,XX+13)
Sex chromosomesTurner syndrome 45,X
Klinefelter syndrome 47,XXY
All chromosomesTriploidy (69 chromosomes)
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Summary of Chromosome Anomalies
• Change in numbere.g. trisomy 21 Down syndrome;
Edwards’ syndrome; Turner syndrome.
Usually an isolated occurrence.
• Change in structuree.g. deletionsMay be inherited.
Trisomy 21
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The DNA Double Helix
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Disease-Associated Mutations Alter Protein Function
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What is a mutation?
Mutation – an alteration or change in the genetic material
In clinical use usually = “harmful”InheritedFrom exposure to mutagenic agents but more
arise spontaneously through errors in DNA replication / repair
More likely to be recognized if effects are detrimental
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Summary
Human body cells contain 46 chromosomes in 23 pairs – one of each pair is inherited from each parent
Chromosomes are made of DNAEach chromosome contains genes in a linear
order; like beads on a stringGenes are codes for cells to make proteinsAlterations in genes or chromosomes alter the
protein produced and can hence cause disease
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http://syndrome.org/patau-syndrome/
http://www.healthofchildren.com/E-F/Edwards-Syndrome.html