BIO 353 Lecture Notes - Lecture 7: Klinefelter Syndrome, Chromosome Abnormality, Turner Syndrome

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13 Jun 2018
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Variation in chromosome number and arrangement
Chromosome does not segregate all the way to the pole of the spindle,it was left out in
the cytoplasm and lost, you’ll lose a chromosome
Reciprocal crosses, offspring identical to mother
Maternal Effect
o A maternal effect is a situation where the phenotype of an organism is
determined not only by the environment it experiences and its genotype, but also
by the environment and genotype of its mother.
o Ex. Coiling direction of snail shells
The coiling phenotype that is seen in the offspring is controlled by the
genotype of the mother.
Chromosome Variation
o Although most diploid species normally contain precisely two haploid
chromosome sets, there are many known variations
A change in the totaly # of chromosomes
The deletion or duplication of genes or segments of chromosome
Rearrangements of the genetic material either within or among
chromosomes (inversions and translocations)
Many types of chromosome abnormalities
o Variation in #
Aneuploids: total # of chromosomes is not an exact multiple of haploid
set( ex. 23 46 )
Trisomic (2N +1)
o Down syndrome
Monosomic (2N -1 )
o Turner Syndrome
Tetrasomic (2N +2 )
o Klinefelter Syndrome
Nullisomic (2N -2 )
o Humans will not survive in this condition
Polyploids (3N, 4N, etc) (Euploids; exact multiple of haploid number)
Autopolyploids
o 2 complete copies of the genome of same species
Diploid Triploid + Tetraploid
Ex. Potatoes
o Chrysanthemum: 1N (haploid set) = 9
o Many closely related species:
2N = 18 (diploid)
4N = 36 (tetraploid)
6N =54 (Hexaploid)
8N=72 (octoploid)
o All are fertile because of an even number of
chromosome sets
Odd # of chromosomal sets in autopolyploids
causes sterility because meiosis proceeds
abnormally and produces unbalanced gametes
o Cells of an individual get bigger, phenotypic
consequence
o Exhibit non-mendelian segregation patterns
o
Allopolyploids
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