3: Modes of inheritance Flashcards
By which four Ms can non-Mendelian diseases be inherited?
Multifactorial disease
Imprinting
Mitochondrial
Mosaicism
Apart from SNPs, what other variations can you get in genes?
Copy Number Variations (CNVs)
Which genetic disease is caused by a mutation in the CF gene?
Cystic fibrosis
What is achondroplasia?
A 100% penetrance disease which causes dwarfism
Where Mendelian disorders have ___ penetrance and a small environmental contribution, multifactorial disease mutations are ___ penetrance and the mutation is just another ___ ___.
high , low , risk factor
What is the common disease / common variant hypothesis?
Commonly inherited diseases are due to commonly inherited defects
Mendelian disorders are very rare
What is a famous model used in the prediction of cardiovascular disease?
Framingham model
What process is carried out by cells to repress transcription of DNA?
DNA methylation
In DNA methylation, which base is methylated first - guanine or cytosine?
Cytosine, then guanine
alphabetical order
Which proteins, found within chromosomes, are modified by DNA methylation?
Histones
DNA methylation prevents the action of which transcription enzyme?
DNA polymerase
DNA methylation prevents (transcription / translation).
transcription
What is imprinting?
Difference in gene expression depending on whether a gene is maternally or paternally inherited
What name is given to differences in gene expression depending on whether a gene comes from your mother or your father?
Imprinting
Give an example of genetic disorder inherited through imprinting?
Angelman’s Syndrome
