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?
What gene is involved in familial hypercholesterolemia?
What gene is involved in Lesh-Nyhan syndrome?
What gene is involved in retinoblastoma?
What gene is involved in Sickle cell and ?-thal?
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
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?
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
A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints youastutely Dx them with
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
Autosomal dominant defects will effect what members of a family
male and female
Autosomal recessive disorders often result in what kind of defect/deficiencie?
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?
Defects in structural genesoften follow what pattern of inheritance?
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
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
Ganglioside is made up of what
Ceramide + oligosacharide + sialic acid
Gaucher's disease is caused by a deficiency of
Glucocerebroside accumulation in the brain,liver, spleen, and bone marrow are characteristic of
Hglycine is used to make what important compound
Porphyrin which is then used to make Heme
Histamine is synthesized form what compound
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