Flashcards in Genetic Contributions to Common Diseases Deck (25):
How do you test for the relative contribution of Genes & Environment?
Describe the different arrangement of membranes in the placenta and their zygosity?
True or False.
There are genetic contribution to disease concordance, even with infections.
How can the problem of shared environment be overcome?
- Adoption studies.
What are the approaches for identifying genetic contributions to common diseases?
Do affected individuals in general population share alleles of certain genetic loci more often than unaffected individuals?
.. Genes contributing to a disease are likely to have certain alleles of nerby genetic markers at different frequencies between unaffected and affected individuals.
What is graves disease (background)?
Affects 0.5% of western populations
Due to presence of autoantibodies to thyrotropin receptor
Leads to over-activity of the thyroid gland
What is autoimmune hypothyroidism (background)?
Due to T-lymphocyte-mediated inflammatory destruction
of thyrocytes within the thyroid gland
Leads to thyroid hormone deficiency
What is type 1 diabetes (background)?
T-cell-mediated destruction of beta cells in the pancreas
Results in insulin deficiency.
Summarise 'A genome-wide search for human type 1 diabetes susceptibility genes' Davies et al., 1994.
- Many (~20) different loci identified with minor contributions
- Seven regions show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families.
- Three chromosome regions were identified that showed significant evidence of linkage (P<2.2x10(-5); LOD scores >4), 6p21 (IDDM1), 11p15 (IDDM2), 16q22-q24, and four more that showed suggestive evidence (P<7.4x10(-4), LOD scores > or =2.2), 10p11 (IDDM10), 2q31 (IDDM7, IDDM12, and IDDM13), 6q21 (IDDM15), and 1q42.
- Results indicate that much of the difficulty in mapping T1D susceptibility genes results from inadequate sample sizes.
In regards to T1d and CTLA-4, what did Ueda et al show?
Ueda et al.,
presented evidence for a shared susceptibility locus
and quantitative variant for 3 common autoimmune diseases
(GD, AIH and T1D) [only one of 20 such loci for T1D]
The alternatively spliced RNA transcripts can encode
variant proteins that contribute to regulation of the
In such cases, genetic (and perhaps environmental) changes
in the relative level of alternative transcripts can contribute
to disease pathogenesis
Describe the relationship between Apoliprotein E and Susceptibility to AD.
Describe the problem of inborn errors in metabolism whilst giving examples.
- Phenylketonuria (PKU).
- Congenital Adrenal Hyperplasia (CAH).
- Lysosomal Storage Disorders.
What happens when it goes wrong.
What are some examples of drugs that produce side effects in some people?
In terms of pharmaceuticals, what do genetic factors effect?
Describe genetic variation in efficacy.
Describe Adverse Events.
Explain the pharmaceutical pipeline.
Explain the Genetics of Adverse Events.
How is haplotype map being used?
Summarise Hetherington et al.
What are the classification of CF gene mutations.