-
Where does RNA processing occur in eukaryotes?
RNA processing occurs in the nucleus.
-
Which is the largest type of RNA?
mRNA (massive)
-
Which is the most abundant type of RNA?
rRNA (rampant)
-
Which is the smallest type of RNA?
tRNA (tiny)
-
Which nucleotide position inthe codon has room for 'wobble' ?
Codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid
-
How do you do a Northern Blot?
Electrophorese RNA on a gel transfer to a filter expose filter to a labeled DNA probe visualize the DNA probe annealed to the desired RNA
-
How do you do a Southern Blot?
Electrophorese DNA on a gel transfer to a filter and denature the DNA expose to a labeled DNA probe visualize probe annealed to desired DNA fragment
-
How do you do a Southwestern blot?
Separate protein by electrophoresis transfer to a filter expose to a labeled DNA probe visualize DNA bound to desired protein
-
How do you do a Western Blot?
Separate protein by electrophoresis transfer to a filter expose to a labeled antibody visualize Ab bound to desired protein
-
How do you do PCR? (4 steps)
1. Heat DNA to denature. 2.Cool DNA and let the primers aneal. 3. Heat-stable polymerase replicates DNA following each premer 4.Repeat
-
What are some genetic diseases detectable by PCR?
SCID, Lesh-Nyhan, CF,familial hypercholesterolemia retinoblastoma, sickle cell, B-thalassemia,hemophilia A and B, von Willebrand's dz,lysosomal dz, and glycogen stroage dz
-
What gene is involved in cystic fibrosis?
CFTR
-
What gene is involved in familial hypercholesterolemia?
LDL-R
-
What gene is involved in Lesh-Nyhan syndrome?
HGPRT
-
What gene is involved in retinoblastoma?
Rb
-
What gene is involved in Sickle cell and ?-thal?
globin gene
-
What is an ELISA (enzymelinke immunosorbant assay)?
Rapid lab test in which an antibody or an antigen(usually collected from a patient) is exposed to an Agor Ab liked to to an enzyme.A positive test results in a Ag-Ab match and is usually indicated by a color change
-
What is PCR?
Lab procedure used to synthsize many copies of a desired fragment of DNA
-
Von Geirke's disease is a result of?
Glucose-6-phosphatase deficiency; also known as Type I Glycogen Storage disease
-
A build up of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells and tissues is found in what disease
Niemann-Pick disease
-
A child is born with multiple fractures and blue sclera what is the diagnosis
Osteogenesis imperfecta;disease of abnormal collagen synthesis resulting in fractures and translucent Conn tiss over chorioid causing the blue sclera
-
A congenital deficiency of tyrosinase would lead to
Albinism, can't synthesize melanin from tyrosine
-
A patient presents with cataracts,hepatosplenomegaly, and mental retardation, what is the Dx?
Galactosemia
-
A patient presents with corneal clouding and mental retardation that is, based onfamily history, inherited in an Autsomal recessive pattern,you impress your intern with a Dx of
Hurler's syndrome
-
A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints youastutely Dx them with
Ehlers-Danlos syndrome
-
Absence of Galactosylceramide Beta-galactosidase leads to the build up of what compound in what disease
accumulation of galactocerebroside in the brain; Krabbe's disease
-
Absence of hexosaminidase Are sults in the acumulation of what molecule that is characteristic of what disease
GM2-ganglioside accumulation; Tay-Sachs disease
-
albinism increase risk of developing what
Skin cancer
-
Autosomal dominant defects will effect what members of a family
male and female
-
Autosomal recessive disorders often result in what kind of defect/deficiencie?
enzyme deficiencies
-
Autosomal recessive disorders usually effect how many generations in a family?
usually only one generation
-
Bloom's syndrome is characterized by sensitivity to what as a result of
sensitivity to radiation as a result of a DNA repair defect
-
Creatine and Urea are both made from?
Arginine
-
Defects in structural genesoften follow what pattern of inheritance?
Autosomal dominant
-
Defiency of arylsulfatase A results in the accumulation of what molecule where
sulfatide in the brain, kidney,liver, and peripherla nerves.Characteristic of Metachromatic Leukodystrophy
-
define genetic imprinting
when differences in phenotype depend on whether the mutation is of paternal or maternal origin
-
define incomplete penetrance
when not all individuals with a mutant genotype show the mutant phenotype
-
define Linkage Disequilibrium
the tendency for certain alleles at two linked loci to occur together more often thatn expected by chance, as measured in a population
-
define pleiotropy
one gene has more than one effect on an individual's phenotype, autosomal dominant defects are often pleiotropic
-
Define variable expression
nature and severity of the phenotype varies from one individual to another
-
Fanconi's anemia is caused by what type of agents
cross-linking agents
-
Ganglioside is made up of what
Ceramide + oligosacharide + sialic acid
-
Gaucher's disease is caused by a deficiency of
Beta-glucocerebrosidase
-
Glucocerebroside accumulation in the brain,liver, spleen, and bone marrow are characteristic of
Gaucher's disease
-
Hglycine is used to make what important compound
Porphyrin which is then used to make Heme
-
Histamine is synthesized form what compound
Histidine
-
How does adenosine deaminase defiency cause SCID
Purine salvage pathway. ADA normal converts adenosine to inosine without it ATP & dATP build up inhibiting ribonucleotide reductase which prevents DNA synthesis lowering lymphocyte production
-
How is Lesch-Nyhan syndrome inheritied and what is the result and symptoms
X-linked recessive; increasein uric acid production. Retardation, self mutalation,aggression, hyperuricemia,gout, and choreathetosis
-
Hunter's syndrome is characterised by what biochemical problem and how is it inherited
deficiency of iduronate sulfatase; X-linked recessive mild form of Hurler's
-
In ataxia-telangiectasia DNA damage caused by what source cannot be repaired
X-Rays
|
|
