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Flashcards in Biochem For Real Deck (21):
1

Missense Mutation

Substitution results in a changed amino acid
Ex: sickle cell disease (valine replaces glutamic acid)

2

Silent mutation

Substitution codes for the same amino acid
Base change in 3rd codon position (tRNA wobble)

3

Nucleotide excision repair

Endonucleases release oligonucleotides with damaged bases
Bulky distorting lesions
Ex: xeroderma pigmentosa

4

Base excision repair

Glycosylase removes altered base and creates an AP site
Repair of spontaneous/toxic deamination
Occurs throughout cell cycle

5

Mismatch repair

Newly synthesized strand is recognized and mismatched nucleotides are removed
G2 phase of cell cycle
Ex: deficient in Lynch (HNPCC) syndrome

6

Nonhomologous end joining

Brings together 2 ends of DNA fragments to repair DS breaks
Ex: ataxia telangiectasia, Fanconi anemia

7

I cell disease

Inherited lysosomal storage disorder
Defect in N-acetylglucosaminyl-1-phosphotransferase: failure of Golgi to phosphorylate mannose residues on glycoproteins

Coarse facial features, clouded cornea, restricted joint movement, high levels of lysosomal enzymes

8

Vimentin

Mesenchymal tissue

9

Desmin

Muscle

10

Cytokeratin

Epithelial cells

11

GFAP

Neuroglia

12

Neurofilaments

Neurons

13

Kartagener Syndrome

Immotile cilia due to dynein arm defect
Infertility
Bronchiectasis
Recurrent sinusitis
Situs Inversus (dextrocardia)

14

Osteogenesis imperfecta

Autosomal dominant
Decreased production of Type I collagen (hydroxylation of prolines and lysine)
Multiple fractures
BLUE SCLERAE
Hearing loss
Tooth abnormalities

15

Ehlers-Danlos

Faulty collagen synthesis (problems with cross-linking collagen)
Hyperextensible skin, tendency to bleed, hypermobile joints
Berry aneurysm
Classical: type V collagen
Vascular: type III collagen

16

Marfan Syndrome

Defect in fibrillin (forms a sheath around elastin)

17

Emphysema

Alpha1 anti trypsin deficiency -- excess elastase activity

18

Southern blot
Northern blot
Western blot
Southwestern blot

Southern-DNA
Northern-RNA
Western-protein
Southwestern-DNA binding proteins

19

Prader-Willi Syndrome

Maternal imprinting: loss of paternal allele; maternal allele is silent
Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

20

Angelman syndrome

Paternal imprinting: maternal deleted and paternal is silenced
"Happy puppet"
Seizures, inappropriate laughter, ataxia and severe MR

21

Frame shift mutation

Deletion or insertion of nucleotides not divisible by 3
Protein may be shorter or longer
Function may be disrupted or altered
Ex: Duchenne's and Tay Sachs