Extras: Genetics, Immunity, Hematopoeisis Flashcards
Other name for reticulocyte
Polychromatic erythrocyte
Two causes of aneuploidy
Nondisjunction, anaphase lag
Isochromosome
Ends up with 2 short or 2 long arms
Robertsonian translocation
Translocation creating 1 large and 1 v small chromosome, small is usually lost
Three mechanisms of genomic imprinting and explain
- Deletion: one chrom deleted -> only 1 allele
- Uniparental disomy: both copies from one parent
- Defective imprinting: no functional alleles
Defective protein for Marfan vs Ehler’s-Danlos
Marfan: fibrillin-1
Ehler’s-Danlos: collagen
Defective enzyme for Tay-Sachs, Neimann-Pick, and Gaucher
Tay-Sachs: HEXA
NP: sphingomyelinase
Gaucher: glucocerebrosidase
Three types of NP vs three types of Gaucher
NP1: severe with neuro involvement
NP2: organomegaly, no neuro
NP3: ataxia, dystonia, gaze palsy, psychomotor regression
G1: organomegaly, no neuro
G2: progressive CNS sx
G3: intermediate with CNS and systemic involvement
Defective enzyme in Hurler vs Hunter syndrome
Hurler: a-L-iduronidase
Hunter: iduronate-2-sulfatase
Defective enzyme in Von Gierke, Pompe, and McArdle disease
Von Gierke: glucose-6-phosphatase
Pompe: acid maltase (lysosomal glucosidase)
McArdle: muscle phosphorylase
Three types of Ehler’s Danlos
Classic: hypermobility, atrophic scarring, easy bruising
Vascular: hypermobility, arterial ruptures, easy bruising
Kyphoscoliosis: hypoxonia, joint laxity, scoliosis, ocular fragility
Type of disorder that shows anticipation
Trinucleotide repeats
Longest vs shortest half life of Igs
longest: IgG
Shortest: IgE
Genetic factor associated with lupus
HLA-DQ
What condition shows anti-histone Abs?
Drug-Induced Lupus Erythematosus
