Lecture 8 ~ 11 -2011- summer

Lecture 8 ~ 11 - Anatomy and Function of a Gene Dissection through Mutation Mutations the heart and soul of genetic analysis You dont know that a

Info iconThis preview shows pages 1–20. Sign up to view the full content.

View Full Document Right Arrow Icon
Anatomy and Function of a Gene Dissection through Mutation
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Mutations: the heart and soul of genetic analysis You don’t know that a gene exists until you have at least two alleles that behave differently. Mutations can identify genes. Nail-patella syndrome
Background image of page 2
Anophthalmia and Sclerocornea
Background image of page 3

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Hypertrichosis
Background image of page 4
Mutations: the heart and soul of genetic analysis You don’t know that a gene exists until you have at least two alleles that behave differently. Mutations can identify genes. Sickle cell anemia.
Background image of page 5

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Mutations Heritable changes in the nucleotide sequence of DNA. Wild-type DNA sequence is changed. What is wild type anyway? – Any allele that occurs naturally? – The allele that occurs most frequently?
Background image of page 6
Types of mutations Forward mutations – Wild type mutant Reverse mutations – Mutant wild type Which would be more common?
Background image of page 7

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Types of mutations Purines (A+G) Pyrimidines (T+C).
Background image of page 8
Effects of substitutions Intergenic regions? Introns? Exons?
Background image of page 9

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Effects of substitutions Intergenic regions? – Probably none. Introns? – Probably none Exons? – Maybe. – Depends on what, if anything, the mutation does to the protein.
Background image of page 10
ATG CG A GTG ATG CG G GTG MET ARG VAL MET ARG VAL Effects of substitutions Exons Synonymous (silent) mutations No effect Change base, but amino acid remains the same. Genetic code is redundant.
Background image of page 11

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Background image of page 12
Exons Missense mutations Maybe an effect Base change results in an amino acid change. ATG C GA GTG ATG G GA GTG MET ARG VAL MET GLY VAL Effects of substitutions
Background image of page 13

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Exons Nonsense mutations Usually an effect Base change results in a stop codon. ATG C GA GTG ATG T GA GTG MET ARG VAL MET * VAL Effects of substitutions
Background image of page 14
Types of mutations Effects? Depends on where and how large it is. What is worse to have in a gene, a 9bp deletion or a 2bp deletion?
Background image of page 15

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Types of mutations Effects? Depends on where and how large it is. What is worse to have in a gene, a 9bp insertion or a 2bp insertion?
Background image of page 16
Types of mutations Effects? Depends on where and how large it is.
Background image of page 17

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Be familiar with the structure of DNA Imagine that the DNA molecule below is broken at the indicated sites, freeing the fragment in blue. The breaks are repaired, but unfortunately the fragment is ligated in the opposite orientation (flipped end for end). Draw the sequence of the new DNA molecule. 5’ ATC GCCA TGC 3’ 3’ TAG CGGT ACG 5’
Background image of page 18
Be familiar with the structure of DNA Imagine that the DNA molecule below is broken at the indicated sites, freeing the fragment in blue. The breaks are repaired, but unfortunately the fragment is ligated in the opposite orientation (flipped end for end). Draw the sequence of the new DNA molecule.
Background image of page 19

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Image of page 20
This is the end of the preview. Sign up to access the rest of the document.

This note was uploaded on 11/07/2011 for the course BIO 325 taught by Professor Saxena during the Summer '08 term at University of Texas at Austin.

Page1 / 205

Lecture 8 ~ 11 - Anatomy and Function of a Gene Dissection through Mutation Mutations the heart and soul of genetic analysis You dont know that a

This preview shows document pages 1 - 20. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online