Exam 1 Flashcards
Alkaptonuria is a disorder in which the body cannot process phenylalanine and tyrosine, this is caused by a mutation in HGD gene for what enzyme?
Homogenisate 1,2-dioxygenase
What is responsible for the strong negative charge of nucleic acids?
The phosphate group
As the parental double helix divides into two double helix DNA with one parental strand in each of the double helices, what is this known as?
Semiconservative replication of DNA
What DNA is very long and has multiple origins of replication?
Eukaryotic DNA
Helix destabilizing proteins, keeps the two DNA strands separate and protects the DNA from Nucleases that cleave single stranded DNA, what is another name for Helix destabilizing proteins…
Single stranded DNA binding proteins (SSB)
Pictures of kids…
The fat kid is the answer, something to do with Prader-willi syndrome or something
DNA polymerase III has what type of polymerase activity?
5’ –> 3’
What type of activity is used to excise mismatched nucleotides during proofreading of newly synthesized DNA?
3’ –> 5’ exonuclease activity
DNA Polymerase I uses what nuclease activity for RNA primers (replacing RNA with DNA), it synthesizes the new DNA and then proofreads the new chain using what exonuclease activity?
5’ –> 3’
3’ –> 5’
What is a multisubunit enzyme used during eukaryotic DNA replication to initiate strand synthesis on the leading strand and beginning of okazaki fragments of the lagging strand?
Pol Alpha
What does not require a primer and has no known endonucleases or exonuclease activity, therefore has no ability to repair mismatch…
RNA polymerase
What does require a primer and has endonucleases and exonuclease activity?
DNA polymerase
What is an enzyme that produces the small RNA’s including tRNAs and small ribosomal RNA?
RNA Polymerase III
When genetic code is redundant where some amino acids have more than one triplet coding for it?
Degeneracy
Huntington disease…
Autosomal Dominant
Galactosemia…
Autosomal Recessive
KNOW autosomal dominant inheritance pedigree works…
Normal parent with Heterozygote –> 50% probability that child will get either affected or normal gene
Causation of the same disease phenotype by mutations at different loci
Locus heterogeneity
What is the differential activation of genes, depending on the parent from which they are inherited. EX. mutation on long arm of chromosome 15 from father = prader-willi syndrome, from mother = angleman syndrome
Genomic imprinting
There was a long codon on the test, had to match it up with other codons…
The codon on the test starts with U. Make sure to know how start and stop codons work!
What enzyme is defective when cancer keeps growing….
Telomerase
RNA polymerase III
tRNA
This trisomy produces Patau Syndrome…
Trisomy 13
Friedreich Ataxia…
(GAA triplet) (intron) - site of expansion and affected sequence caused by nucleotide repeat mutation = AUTOSOMAL RECESSIVE
What trisomy has an incidence of 1 in 800 live births?
Trisomy 21
Picture of a down syndrome child…
Trisomy 21
What trisomy produces Edward syndrome and is the most common chromosome abnormality among still-borns…
Trisomy 18
What trisomy is associated with Klinefelter Syndrome?
Trisomy XXY (Karyotype 47)
Sometimes a chromosome divides along the axis perpendicular to its usual axis of division resulting in a chromosome that has two copies of one arm and no copies of the other… What is this called?
Isochromosomes
Isochromosomes split in what way?
Horizontally, not vertically
Most isochromosomes observed at live births involve the X chromosome and usually have features of what genetic disorder?
Turner syndrome
Difference between DNA and RNA?
RNA has no exonucleases or endonucleases
What is the most common inherited cause of mental retardation - the X exhibits breaks and gaps near the tip of the long arm. (Down syndrome is a chromosomal abnormality and NOT an inherited GENE mutation)
Fragile X Syndrome
When permutations tend to become larger in successive generations is known as what?
Sherman paradox
Kearns-Sayer syndrome is what?
Mitochondrial inheritance disease
Familial Hypercholesterolemia is what?
Autosomal dominant
Hemophilia A….
X-linked recessive
What results in La Von Gierke Disease (GSD I) in the Liver?
Glucose-6-phosphatase defect
What is the most prevalent amino acid metabolism disorder?
Phenylketonuria (PKU)
What disease results from deficiency in Branched-Chain a-ketoacid dehydrogenase…
Maple syrup urine disease
Xeroderma pigmentosum (XP) groups A-G
Skin cancer, cellular UV sensitivity, neurological abnormalities
