Chapter 6 (chromosome mutations)
Transcript of Chapter 6 (chromosome mutations)
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Chromosome MutationsVariation in Number and Arrangement
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What are chromosome mutations?
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These are chromosome mutations!
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Variation in Chromosome Number
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Variations in Chromosome Number
Aneuploidy› Gain or loss, one or more chromosomes› Monosomy, Trisomy
Euploidy› Complete haploid sets
Polyploidy › More than two sets are present
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Variations in Chromosome Number
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Monosomy X(Turner’s Syndrome)
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Haploinsufficiency A single copy of a recessive gene (due
to monosomy) may be insufficient to provide life-sustaining functions
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Trisomy 21 (Down’s Syndrome)
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Nondisjunction
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Klinefelter Syndrome
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Prenatal Diagnoses
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Prenatal Diagram
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Amniocentesis Fetal cells obtained from amniotic fluid
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Chorionic Villus Sampling Fetal cells obtained from the chorion of
the placenta
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Noninvasive Prenatal Genetic Diagnosis
Fetal cells and DNA are derived directly from maternal circulation
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Human Aneuploidy
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Patau Syndrome (Trisomy 13)
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Patau Syndrome
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Edwards Syndrome (Trisomy 18)
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Polyploidy
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Polyploidy Originates in two ways: 1. the addition of one or more extra
sets of chromosomes, identical to the normal haploid complement of the same species, resulting in autopolyploidy
2. the combination of chromosome sets from different species occurring as a consequence of hybridization, resulting in allopolyploidy
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Autopolyploidy
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Autopolyploidy
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Allopolyploidy
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Allopolyploidy
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Autopolyploidy vs. Allopolyploidy
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Variation in the Composition and Arrangement of
Chromosomes
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Deletions Also called a deficiency A chromosome breaks in one or more
places and a portion is lost
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Deletions Terminal deletions
Intercalary deletions
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Cri du Chat Syndrome Loss of a small part of the short arm of
chromosome 5
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Duplications
A piece of the chromosome is present more than once in the genome
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Duplications
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Duplications 1. may result from
gene redundancy 2. may produce
phenotypic variation 3. have been an
important source of genetic variability during evolution
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rDNA and Gene Amplification
rDNA codes for RNA segments Gene amplification occurs when
multiple copies of gene code for a specific product
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The Bar Mutation in Drosophila
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Fragile X Syndrome (Martin-Bell Syndrome)
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Inversions A segment of the chromosome if
turned around 180 degrees within the same chromosome
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Inversions
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Chromosome 9 Inversion
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Translocations
The movement of a chromosomal segment to a new location in the genome
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Translocations
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Acute Myeloid Leukemia
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Fragile Sites
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Fragile Sites Appear as gaps in some karyotypes Appear to be susceptible to breakage
in some situations
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Fragile Sites and Cancer Chromosome 16, WWOX gene
› Lung, breast, ovary, prostate, bladder, esophagus, pancreas
Chromosome 3, FHIT gene› Esophagus, breast, cervix, liver, kidney,
pancreas, colon, stomach Increased susceptibility to mutations
and deletions