Continuation.chapter 3

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Continuation.chapter 3
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Genealogical history vs mutation rate

• Genealogical history primary determinant of
  diversity not as much so mutation rate.

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Sexes and mutation!
DNA replication Males- 35 Females-
22 Recombination Male - 50 Females-80
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DNA mutation with age
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Hapolotype, diversity and LD

• Haplotype - is simply the combination of alleles
  or polymorphisms along a chromosome or a
  sequence.
• The sites can include many types of DNA
  polymorphisms

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Linkage Disequilibrium (LD)

• Non-random association between alleles in a
  population due to their tendency to be
  coinherited because of reduced recombination
  between them.
• The greater the distance between two alleles less
  likely they will remain associated with each
  other.
• LD occurs when alleles are found together more
  often than would expected if alleles were
  segregating at random.
• LD is high when association is high
• LD is low when association breaks down
• Diversity is low within blocks and high between
  blocks

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Diversity rises around Recombination spots and
LD decrease there because alleles are separated.
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Expression
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Chapter 4

• Methods to characterize the diversity in our
  genome.

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Expression
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Expression
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Expression
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Expression
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Expression
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Expression
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Genotype to haplotype

• Haplotype - is simply the combination of alleles
  or polymorphisms along a chromosome or a
  sequence.
• Haplotypes are essential for
• Forming the evolutionary history of genes
• Locating genes associated with disease
• Understanding recombination in the human genome
  and patterns of LD

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Haplotypes on non-recombining genomes are easy to
deduce.
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Genotype to haplotype

• How to deduce haplotypes from SNP data
• Separate the alleles and then type them
• Statstically deduce them
• Pedigree studies

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I. Physically separate the alleles
Expression
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II. Statistically separate them
Expression
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III. Pedigree analysis.
Expression