molecular medicine and clinical practice Flashcards
how many T1D loci
> 50 - associated with other autoimmune disorders
what is linkage disequilibrium
marker near gene is associated with great frequence of having diease
what did new gene the lady found do
made a protein that maybe signal pathogen recognition
what else do people with these genes tend to have
other autoimmune disorders
what are goals for genes and diabetes
- predict risk
- prevent it
- fix rejection of regened B cells
what is Turners
XO - short and delayed puberty
what is link between people with short stature and turners
SHOX genes
where is SHOX gene found
very tip of X and Y
what does SHOX do
expressed in bone and chondrocytes and regulated diff and prolif at growth plate
what is the treatment of SHOX def.
GH
what is acid labile subunit deficiency
not able to make a protein that transports IGF-1 so it breaks down an get short peopls
what is treatment of ALS def.
give subcutanous pump of IGF so constant rate because it has a short half life
what is testotoxicosis
activating mutation on the LH receptor
what happens in testotoxicosis
precocious puberty
treatment of testotoxicosis
anti-androgens
