Effects of Translocations and Polyploidy in Cells

Altered Gene Regulation

Change in gene expression levels from regulatory shifts.

Trisomy

Extra chromosome in a pair (2N+1).

Monoploidy

Single set of chromosomes, observed in gametes.

Autopolyploid

Genome duplication within the same species.

Allopolyploid

Hybridization of different species followed by duplication.

Colchicine Treatment

Chemical that inhibits mitosis, doubling chromosomes.

Hybridization

Crossing two species to create new genetic combinations.

Fertility in Polyploids

Autopolyploids often fertile; allopolyploids typically fertile.

Sterility in Polyploids

Odd or unbalanced chromosome numbers can cause sterility.

Down Syndrome

Trisomy 21, an extra chromosome 21.

Translocation

Chromosomal segment moved to another chromosome.

Gene Disruption

Interruption of gene function due to translocation.

Loss of Genetic Material

Deletion of essential genes during translocation.

Imbalanced Chromosome Number

Abnormal chromosome counts from reciprocal translocations.

Euploidy

Complete set of chromosomes, multiple of N.

Aneuploidy

Abnormal chromosome number, not multiple of N.

Monosomy

Missing one chromosome from a pair (2N-1).

Diploid

Organism with two complete sets of chromosomes.

Triploid

Organism with three complete sets of chromosomes.

Polyploidy

Multiple complete sets of chromosomes in organisms.

Turner Syndrome

Monosomy 45,X, missing one X chromosome.

Klinefelter Syndrome

Trisomy 47,XXY, extra X chromosome in males.

Patau Syndrome

Trisomy 13, an extra chromosome 13.

Wheat

Common allopolyploid, hexaploid from three species.

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Regions of genes that encode proteins(exons)

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Introns and other parts of genes such as enhancers

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Unique noncoding DNA

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Repetitive DNA

nullisomy

loss of homologous pair (2n -2)

tetrasomy

gain of homologous pair (2n + 2)