Linkage Studies 1a

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Linkage Studies (1a)
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Linkage Studies (1b)
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Power of 595 independent sib pairs (Koller et al.
2000) and 53 pedigrees composed of 630
individuals (Deng et al. 2002).
A recombination fraction0
B recombination fraction0.05.
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Linkage Studies (2)
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Linkage Studies (3)
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Linkage Studies (4)
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Linkage Studies (5)
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Sib pairs Required to Achieve 80 Power (at LOD
3.0)
Comments
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QTL Mapping in Mice
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QTLs for Animal Models with Putative Homologous
Human Location
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QTLs for Animal Models with Putative Homologous
Human Location
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QTLs for Animal Models with Putative Homologous
Human Location
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QTLs for Animal Models with Putative Homologous
Human Location
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Fine Mapping (30cM to 1 cM) (Deng et al. 2000)
Exclusion Mapping (Deng et al., 2001)
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What phenotypes to study?
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Correlations between two complex traits
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Limitation of studying risk factors only (1)

• NIDDM (Ghosh et al. 2000) chromosomes 20, 11, 2,
  10 and 6.
• Risk factors (Watanabe et al. 2000) chromosomes
  3 (fasting C-peptide/glucose), 10 (acute insulin
  response), 13 (BMI and 2-h insulin), 17 and 19
  (empirical insulin-resistance index).

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Limitation of studying risk factors only (2)

• Myocardial infarction
  (Broeckel et al., 2002) Chromosome 14.
• Risk factors (Broeckel et al., 2002) Chromosomes
  1 and 6 (lipoprotein a), 14,17 (LDL cholesterol
  concentrations), 1 (HDL cholesterol
  concentrations) , 9 (triglyceride concentration),
  6 (type II diabetes), 6 (systolic hypertention),
  1 (diastolic hypertention).

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DNA microarray studies
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DNA microarray studies Examples

• Identification of 9 novel genes and ESTs induced
  in murine osteoblasts during their
  differentiation from mesenchymal progenitor cells
  (Vaes et al., 2002).

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Proteomics

• 30,000 genes, 1.5 million proteins.
• Analyzing functions of gene products (large-scale
  identifying or localizing proteins and studies of
  protein-protein interactions).
• Linking gene expression to cell metabolism and
  function and to genetic maps.

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Acknowledgement
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Thank you!