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Medical Genetics
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Medical Genomics Revision LectureGene regulation - process that is used to control the timing, location and the amount in which
genes are expressed.
Epigenome-environment-epigenotype-phenotype
Genotype linked phenotype
Part of the environment- microbiome- how to keep it healthy
Monogenic diseases= disorders caused by inheritance of single gene mutations, examples
of genotype directly causing change in phenotype
Genotype equals phenotype- 1 base chain produces 1 disease phenotype with similar
correlation . The severity of phenotype may vary and manifest during oxidative stress.
Complex diseases= caused by the interaction of multiple genes and environmental factors
genetic and environmental changes. It influences the outcome of the disease. Such as type
2 diabetes, autoimmune disease and neurological diseases such as parkinson's alzheimer.
Molecular mechanisms- what;s going on with the genetic level.
Sickle cell anaemia= recessive disease, both alleles are B-globulin gene, impact of
environment is important can affect the severity of the disease.
Environmental effect on the function of the gene: genes can be modulated to express the
gene. Histone modification-methylation and acetylation
CRS- found in promoters, enhancers, silencers and insulators. Cis regulatory sequences-
called CRS- closed to promoters. Elements of the genomes that are functional elements of
the genome.
Histone modification- wrapped round the DNA methylation, gathered together and
switched.
Chromatin looping= regions of dna are separated are bought together,
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