Molecular diagnostics lesson 2
DNA techniques
- SNP analysis
- MLPA
- Array – CGH
- Whole exome sequencing
Example: diagnosis of childhood acute myeloid leukemia
- First symptoms by anamnesis
o Fever with or without an infection.
o Night sweats.
o Shortness of breath.
o Weakness or feeling tired.
o Easy bruising or bleeding.
- Second
o Cytology: blood – bone marrow
o Numerous agranular and granular
o myeloblasts are present in the bone marrow.
The diversity of mutations that can initiate human cancer
- Example: BRAF mutations in melanoma
o BRAF gene encodes B-Raf, a member of the Raf
kinase family of growth signal transduction protein
kinases.
o B-Raf is also called a proto-oncogene
serine/threonine kinase
o BRAF V600E activation is independent of normal
regulatory signal
DNA techniques
- SNP analysis
- MLPA
- Array – CGH
- Whole exome sequencing
Example: diagnosis of childhood acute myeloid leukemia
- First symptoms by anamnesis
o Fever with or without an infection.
o Night sweats.
o Shortness of breath.
o Weakness or feeling tired.
o Easy bruising or bleeding.
- Second
o Cytology: blood – bone marrow
o Numerous agranular and granular
o myeloblasts are present in the bone marrow.
The diversity of mutations that can initiate human cancer
- Example: BRAF mutations in melanoma
o BRAF gene encodes B-Raf, a member of the Raf
kinase family of growth signal transduction protein
kinases.
o B-Raf is also called a proto-oncogene
serine/threonine kinase
o BRAF V600E activation is independent of normal
regulatory signal
