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BIOL 239 (290)
Lecture

Set 20.docx

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Department
Biology
Course
BIOL 239
Professor
Christine Dupont
Semester
Winter

Description
Set 201 chromosomal rearrangements2 all are mutationsAn heritable change in DNA sequence3 deletions Deletions remove DNA information from the genomeHomozygosity for gene deletions is often but not always lethalHeterozygosity for gene deletions is often detrimentalGene dosagethe number of times a given gene is present in the genome4 genedosage effectA deletion of an entire genes or even a segment of the gene results in a single dose of that gene product in an otherwise diploid individual which normally relies on two dosesEx human criduchat syndrome of infantsdeletion on the short arm of C5 chromosome fiveheterozygotes have a small head widespaced eyes round face and cognitive deficiencies5 critduchat syndromeNote the deletion of short arm for chromosome 5Criduchatcry of a cat in French It is called this because these things usually make infants cry6 heterozygosity for deletions may have phenotypic consequences
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