BIOL207 Lecture 29: b207lect29_1 copy.pdf
4 Dec 2014
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Open genetics - figure 9. 7: classification - gene dose, unbalanced rearrangements. Several genes too few (deletions) or too many (duplications) 46,sex,del(5)(p15pter) - cri-du-chat syndrome http://www. ucl. ac. uk/~ucbhjow/bmsi/bmsi_7. html: balanced rearrangments. Genes are present in the correct number in new locations on the same chromosome (inversions) or different chromosomes (translocations) Example: 46,sex,t(1;3) http://chromosomesincancer. org/articles_en. html: classification - age, the event occurred before the origin of humans. Each human chromosome has a counterpart in chimps gorillas orangutans. When did the robertsonian translocation occur: the event occurred after the origin of humans. Example: newfoundland inversion: the event happened in a parent"s germline cell. All of the cells have the rearranged chromosome(s) Example: cri-du-chat deletion: the event happened in a somatic cell. Some of the cells have the rearranged chromosome(s) Example: philadelphia chromosome http://php. med. unsw. edu. au/embryology/index. php?title=embryonic_development: importance - health, viability. Balanced rearrangements may decrease fertility e. g. cell/organism heterozygous for a pericentric inversion. It is common today in people whose ancestors come from there.
