INTERESTING TIMES

moving target definition of gene:
gene = nucleotide coding sequence for a particular prot, molecular component (or a larger complex) or trait
( notes )

OMIM HOME: http://www.ncbi.nlm.nih.gov/omim
this is the most imp reference for this discline
the genetic basis of everything even the photic sneeze
no longer in print form
contains 6 digit number for every genetic condition known for humans
first digit indicates mode of inheritance:
1 = autosomal dominant
2 = autosomal recessive
3 = x-linked
4 = y linked
5 = mitochondrial loci
6 = autosomal loci
our class is organized around these same categories

( notes here include everything he bolds in notes, ie all for test )

The "rare syndromes" that are associated with multiple lipomas, according to my minor surgery notes, are "Gardner's syndrome and two benign conditions--multiple symmetrical lipomatosis and Dercum's disease. In the latter, the lipomas are painful". I had to look it up because my sister's husband is covered in them, and because in the last 2 years I've begun to develop them all over my body including strange locations such as over the biceps femoris tendon in my posteriolateral popliteal area--very small so far--I suspect a hormonal etiology. More occur in women after menopause, and familial types onset at adolescence. With some types there is an increased incidence of breast, endometrial and thyroid cancer. Sounds like it may be related with estrogen dominance. This would be supported by the increased incidence with obesity. There is also an association with multiple endocrine neoplasia type I (lipomas and pancreatic, parathyroid, pitutitary tumors). The list of hormonal associations increases the deeper I dig. There are also fat deposits associated with spina bifida. Looks like nobody has studied hormones in lipomatosis patients, but based on my short survey I have just now formed the opinion that is expressed in the title of this entry.
( notes: fyi, when something is marked with triple questionmarks it means that the source is not convincing and I kinda doubt it, but I'm recording it for future reference anyway )

Kary Mullis is a surfer dude and brilliant molecular biologist who got a Nobel prize for his idea. In 1985 he dreamed up an in vitro method for gene amplification. His method is called PCR, polymerase chain reaction. The process is brilliant because it can be completely automated and the starting material can be impure.
( PCR details )

Useful site for understanding metabolism of drugs
and genetic/individual differences in processing:
http://www.pharmgkb.org/

Their Mission: To collect, encode, and disseminate knowledge about the impact of human genetic variations on drug response. We curate primary genotype and phenotype data, annotate gene variants and gene-drug-disease relationships via literature review, and summarize important PGx genes and drug pathways.

Another interesting site: http://www.pgxlab.com/general_public/

--second messenger = diffusable signaling molecule produced or secreted after signal is received
--molecule activates effector proteins inside cell-->cell response to signal
--can be synthesized/released and broken down again in specific rxns
--production, storage, and destruction can be localized
( this stuff is pretty hazy so far, clarification much needed )

What is the most common hereditary clotting problem?
--Von Willebrand's Dz (factor is absent or abnormal, many varieties)

What do you call an inactive enzyme precursor in the clotting cascade?
--a zymogen

What do you call a coagulation deficiency from to a deficiency of Factor VIII due to an X-linked recessive gene?
( answer and more self-quiz )