ANHB1102 Lecture 25: Genetics 1 Notes

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ANHB1102: Genetic Variation (Video 1)
Differences in species =
environment and genetic
variation.
Intra species variation not
just humans, other species as well.
Genetic variation is the
catalyst for evolution
Forms of variation:
1) sequence polymorphism
(SNP)
- Variation at nucleotide
level
- First individual has C,
second individual has T
- Normally 2 different nt at
the same position, rarely all 4
2) Length polymorphism (indel)
- motifs = repeats
- First individual has 3 repeats whereas the other has 2
3) CNV
- where genome might be duplicated in one individual (single copy of the other)
- Hence if more than 1 copy, might have more proteins produced = disease
4) Chromosome inversion/genome duplication
- Major shifts in genome = usually result in deaths, fetus wont survive.
1) Double stranded DNA molecule, when
transcribed, DNA opens
2) mRNA molecule complementary pair
with one strand of the DNA, transport from
nucleus to cytoplasm
3) Translation occur from mRNA to AA
sequence
- Each codon = 1 AA
- But more than 1 codon can code for the same
AA
4) tRNA complementary pairs with codons
= form 1 AA. Series of codons = series of AA =
protein!!
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Redundancy:
- Single nt polymorphism = a mutation at DNA
level can cause difference in AA
- Eg. Threonine can be coded by 4 different
codons. If single nt change in the first/second base,
AA will change.
- But if third base changes, threonine remains as
the AA in the protein.
- Redundancy in genetic code can determine
whether single nt polymorphism affects the AA.
3 individuals:
- Although person 2 has single nt polymorphism
(from A to G in 3rd base of 1st codon), it still codes for
the same AA, hence at AA level, there is no difference
between them = synonymous change
- 3rd person however, AGA changes to AAA (2nd
codon), AA changed (arg to lys).
- Hence it is called a nonsynonymous change
because it has changed the AA, so no longer
synonymous.
- Consequence = protein produced would be
different. Sometimes function can change, or not, or
slight modification.
Synonymous (silent):
- neutral, no effect on protein = no AA change (base change but
AA remains)
Non-synonymous (missense/nonsense):
- missense = AA changes!
- Nonsense = changes to a stop codon = termination = dramatic
effect on protein
Eg. Hb beta gene:
- Hb has 2 different polypeptides, alpha and beta
- 2 of each of them forms the complex
- Beta gene has 2 types, A = normal. S = sickle
- 2 copies of S = cause sickle cell anemia. (recessive).
- If have one copy of sickle
cell allele, protected from
malaria (heterozygous)
- A and S are at 6th codon of beta mRNA (A = GAG. S = GUG)
- A form Glu. S form Val
- Single nt change causes change in AA = non-synonymous
missense change
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- If 2 S (beta gene)
- = sickle cell anemia = death
- Frequency of S allele is prevalent in
malaria infested regions = selected
advantage for maintaining this allele in the
population
- Genetic variation occur within coding
regions/exons in a gene and it affects the
function and structure of a protein
- Gene has introns and regulatory type
elements that can occur upstream from start
initiation codon
- These sequences can exhibit variation; it
can affect the way it is transcribed = affect
gene expression
- Variation in non-coding parts of gene
usually associated with disease
- Can affect binding sites of proteins that
initiate transcription
- Other nucleic acid binding proteins affect the
transcription levels of their expression of a protein
- Variation in non-coding areas affect splice sites, affect
whats being expressed or not.
- Heterozygosity = 1 individual likely heterozyg0te in 1 in 1000 nt pairs.
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Document Summary

Differences in species = environment and genetic variation. Intra species variation not just humans, other species as well. Forms of variation: (snp) level second individual has t. Normally 2 different nt at the same position, rarely all 4. First individual has c: length polymorphism (indel) First individual has 3 repeats whereas the other has 2: cnv. Where genome might be duplicated in one individual (single copy of the other) Hence if more than 1 copy, might have more proteins produced = disease: chromosome inversion/genome duplication. Major shifts in genome = usually result in deaths, fetus won"t survive. Translation occur from mrna to aa mrna molecule complementary pair. Double stranded dna molecule, when transcribed, dna opens with one strand of the dna, transport from nucleus to cytoplasm sequence. But more than 1 codon can code for the same. Series of codons = series of aa = protein! trna complementary pairs with codons. But if third base changes, threonine remains as.

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