GEN-3000 Lecture Notes - Lecture 6: Robertsonian Translocation, Chromosomal Translocation, Sister Chromatids
20 Feb 2017
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Document Summary
Karyotype - display of a complete set of chromosomes. Chromosomal mutations: chromosomal rearrangements, aneuploids - the number of chromosomes is altered (addition/deletion, euploids (polyploidy) - one or more complete sets of chromosomes are added. Homologous vs. nonhomologous duplication - duplicated region is immediately adjacent. Duplication (t) or located some distance (even on different chromosomes) A segment of dna is duplicated and stuck into the chromosome. A loop formed during meiosis is characteristic of duplication. A segment of dna is rearranged (inverted) and put back onto the chromosome. A segment of dna is deleted entirely from the chromosome. Two chromosomes (possibly sister chromatids) swap two segments of dna with. Balance of gene products must be maintained for some pathways. Extra gene interferes with products prevents it from doing its job or does something else that it isn"t suppose to. Deletion of centromere leads to loss of the chromosome (no segregation in. Loss of essential genes = lethality if homozygous for loss.
