Please enable JavaScript.
Coggle requires JavaScript to display documents.
Genetics, Genetics, the most important genetic disorders you must know:
…
Genetics
-
-
Single gene defects: XLR, XLD, Y linked diseases
X linked recessive
gender
males
- more severe phenotypes since they only have one X chromosome
females
- variable phenotypes because one of the X chromosomes could be inactivated/lyonised
-
X linked dominant
gender
more frequently in females than males, and males are more affected than females
-
Y linked
gender
- will only be passed onto son
- daughters will always not get the disease
-
-
-
Genetics
-
genetic testing
-
types of tests
cytogenetic tests
- karyotyping test
- examination under the microscope for the whole chromosome for the presence of abnormalities
DNA level
- analyse the exon and the exon intron boundaries
RNA level
- less frequently used as RNA is not stable and hence its hard to handle
- RNA cannot be studied if the tissue does not express the gene
protein/gene level
- cheaper
- look at the amount, function or structure of the protein/gene product
naming a variant
- which chromosome is it on
- reference sequence used
- where in the genome is it and what ahs changed
-
-
-
the most important genetic disorders you must know:
- Chronic myeloid leukemia
- Down syndrome
- Duchenne muscular dystrophy