Review for the final in Disease, Genes, and Therapeutics

Focus on PowerPoints
Some information is pre mid term
Learn basic understanding of things first and then expand
Lymphocytes are a type of leukocytes which is important for SCID
Deoxyadenosine is toxic to your lymphocytes (ADA SCID)
Refresh on viral vectors
Synonymous mutation, change in the genetic code that still codes for the same thing
TREC ASSAY *** looking for circular DNA in the TREC Assay
Breast and Ovarian Cancer
BRCA1 and 2 is on different chromosome
o Involved in homologous recombination for double strand DNA break
Incomplete penetrance and variable expressivity
Biomarkers on Tumors BRCA 1 tumors are more likely to be triple negative
Trisomy
o 13 Patau
o 18 Edwards
o 20 Downs
Aneuploidy to many or to few chromosomes (to many in trisomy)
Robertsonian Translocation acrocentric chromosome: P arm encode ribosomal RNA,
are lost and the Q arm is fused. Imbalance karyotype 13 14 15 21 22 are the
chromosomes
Mosaicism different chromosomal identities
Prenatal screening for looking for chromosomal abnormalities
Dysmorphic features
CF affects a lot of organ systems (digestive, respiratory, pancreases, sweat glands)
o In the CFTR gene
o Can cause CAVD
Can cause obstructive azoospermia
o Can do artificial reproductive insemination
o Newborn screening
o Pathways implicated (airway surface liquid, epithelium sodium channels)
o DDx (differentials)
Steatorrhea greasy stool caused by excess fat
Mucous build up in the pancreases. Lipase cannot get out to do
anything
o Mutation classes 1 2 3
Turner Syndrome
o Karyotypes 45X
o X-Inactivation

o Features
Short stature, ect
o Escaping X-Inactivation
o Par 1 and Par 2 dont forget there is a 2
o Look into Parental imprinting looking into willy syndrome and the other disease
mentioned
SCID
o Make the tetramers
Adult hemoglobin is HbA 97% HbA2 2% and HbF 1%
HbA = 2 alpha and 2 beta
o These come from chromosome 11 gene cluster
HbA2
o 2 alpha and 2 Delta
HbF
o 2 alpha and 2 gamma
o Comes from the gamma gene on chromosome 11
o SC disease
o Sickle Cell Anemia
Majority of Hb is hemoglobin S
Beta 0 or Beta + is a generic way of saying you dont make a normal beta
chain or you have less beta chain
Hemoglobin tetramers
Protruding valine makes the tetramers, under a deoxygenated state, the
hydrophobic pocket is protruded into by this valine changes its shape
o Thalassemia
Imbalance of alpha and beta chains
This causes red blood cells to die due to inefficient erythropoiesis
Paper
o Know the general gist of the papers
o You need to have the hemoglobin tetramer down pat ****
Methylation did not talk about but need to know