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Lecture 7

GN 301 Lecture Notes - Lecture 7: Colchicine, Robertsonian Translocation, Fragile X Syndrome


Department
Genetics
Course Code
GN 301
Professor
Marian- Elizabeth B.Gardner
Lecture
7

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2.2 Chromosome Variation
Tuesday, September 19, 2017
11:20 AM
1 in 150 have chromosome abnormality
o Most cancer patients and 50% of miscarriage have abnormalities
Chromosome Aberrations
o Altered arrangement of genes on chromosome; diff. banding pattern
o Deletions
Missing part of chr.
Cri-du-chat
Missing part of 5
Abnormal cry due to small larynx
Mental and physical retardation
William Syndrome
Missing 26 genes on chr #7
Mental and physical issues
Musical talents
o Duplication
Extra copy of a gene (can occur at crossing over due to chromosomes not lining up
correctly)
Charcot-Marie-Tooth
Chromosome 17
Gene duplication for myelin protein which causes nerve issues due to myelin
Motor neuron issues
Fragile X Syndrome
Increased number of copies of codons (trinucleotides) within one gene
Intellectual disability
On X chromosome
o Inversion
Part of chromosome put in backwards
Alters regulations of specific genes
Can also move from one arm to another arm of one chromosome
o Translocation
2 chromosomes exchange entire arms
Often in cancer cells
Changes gene expression
Burkitt's Lymphoma
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