ebio - Vocabulary: Point mutation base pair substitution,...

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Vocabulary: Point mutation base pair substitution, creates new alleles. Example: sickle cell anemia. Created through random errors in DNA synthesis or repair Transitions purine for purine (a  g) Pyrimidine for pyrimidine C  G) Transversions purine for pyrimidine vis versa Replacement substitutions (non-synonymous) Change in amino acid (1 st 2 of the 3) New allele Silent substitution (Synonymous, samesense) No amino acid change. 3 rd bp New allele Sickle cell anemia point mutation Heterzygotes advantageous where malaria is common Cells in heterozygote prone to sickeling, which kills Malaria parasites Gene duplication extra copy of dna sequence. Through crossing over New redundant genes may acquire new function May lead to gene conversion Cytochrome p450 gene superfamily decontamination and detoxification of metabolism of chemicals foreign to body Each mammal has 60-200 in the genome Extreme polymorphism Gene duplication followed by gene conversion Hypersensitivity when an individual has poor metabolism to
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This note was uploaded on 04/29/2008 for the course EBIO 111 taught by Professor Henry during the Spring '08 term at Tulane.

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ebio - Vocabulary: Point mutation base pair substitution,...

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