What effect would an extra chromosome have on the sex chromosomes?
minor effects
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What are non-homologous chromosomes?
chromosomes not part of the same pair
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What are Translocations. What is the effect on humans?
the exchange of parts between non-homologous chromosomes. Carriers are normal, but their offspring can have missing/additional chromosomes, which is lethal.
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What is a Deletion? What is the effect?
part of a chromosome is missing. Severity depends on size of missing region
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What is the result of part of chromosome 5 being missing?
Cri-du-chat syndrome.
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What is an Inversion?
breakpoints in chromosomes occur, and when they get repaired, the middle segment between the 2 breakpoints is inverted.
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What are the 2 main types of inversions and what are the effects of each?
Paracentric (centromere excluded)- no effect on phenotype. Pericentric (centromere included)- possible problems in meiosis.
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Give 2 examples of coding region mutations?
Substitutions and Insertions/Deletions.
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What is a Substitution?
When a nucleotide is changed in a 3-nucletiode codon.
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What is the name for a substitution mutation that doesn't change the amino acid produced?
Silent or synonymous mutation.
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What is the name for a substitution mutation that does change the amino acid produced?
replacement or non-synonymous mutation.
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Albinism is an example of a phenotypic polymorphism that arises due to mutation of one nucleotide. What is the cause?
a single mutation in the Tyrosinase gene.
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Give 2 examples of non-coding region mutations?
SNPs (single nucleotide polymorphisms) and Satellite DNA (short tandem repeats).
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Other cards in this set
Card 2
Front
Describe the inheritance of acquired characteristics theory?
Back
Organs used grow bigger (eg. muscles from blacksmith. necks on giraffes), and offspring inherit these characters. This theory was proved wrong.
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