intro to medical genetics Flashcards
what are the bases of DNA?
A,T,G,C
what are the bases of RNA?
A,U,G,C
what is the mutation of Down syndrome?
trisomy of Ch21
what is chromosomal abnormalities?
when the chromosomes are functioned properly and they are structurally and functionally abnormal e.g. Down syndrome.
what is single- gene disorders?
it is mutations in the DNA sequence of a specific gene
what is multifactorial disorders?
caused by factors such as environmental and other contributing factors
what is mitochondrial disorders?
when not enough energy is produced
what is diseases caused by?
mutations in the protein coding genes as the examples include
- chromsome disorders
-single gene
-multifactorial
-mitochondira
what does potenetiators do?
hold channel In a open state
what does correctors do?
help CFTR protein fold correctly
what does amplifiers do?
increase CFTR expression.
what is somatic gene therapy?
placing a human healthy gene into a living person’s somatic cells
what is gene replacement therapy?
replaces a faulty gene or adds a new gene to improve the body’s ability to fight diseases.
