Disease Categories Flashcards
Cytogenic dis’s affecting sex chromos
Klinefelter synd, Turner synd, hermaphroditism and pseudohermaphroditism
Point mutation: nonsense
B-thalasemmia
ADD from gain of fct mutation
Huntingtons: rise to Huntingtin (abn protein)
Cytogenic dis’s affecting autosomes
Trisomy 21, 18, 13, chromo 22q11.2 deletion synd
Codominant
- ABO blood grp
- a1-antitrypsin deficiency
Mito dis
Leber hereditary optic neuropathy (LHON)
Deletion
CF: lacks aa 508 (phe) on chromo 7
Trimucleotide repeats
Huntingtons dis
Fragile X: 100s CCGs in FMR1 gene
GSDs
- Hepatic form: Von Gierke dis (T1 glycogenolysis
- Myopathic form: McArdle dis (T5 glycogenolysis), T7 glycotenosis
- Other form: Pompe dis, lack branching enz
Mendelian disorders: genetically determined adverse rxns to drugs
-G6PD deficiency
other genes that affect expressivity and penetrance
SCA: a-globin effects how much Hb made in the 1st place
Complex multigenic disorders
- atherosclerosis
- DM
- HTN
- autoimmune dis
Mendelian disorders: defects in structure, fct, quantity fo nonenz proteins
Hemoglobinopathies, thalassemais, osteogenesis imperfecta, hereditary spherocytosis, muscular dystrophies, MFS, EDS
X-linked recessive dis
- Nervous: Fragile X synd
- Hunter synd (a type of MPS)
- (Blood: G6PD deficiency)
- (color blindness(
ARDs:
- Metabolic: LSD, GSD, (CF, a1-antitrypsin deficiency)
- Skeletal: EDS-kyphoscoliosis type Dermatosparaxis type, alkaptonuria
- MPS (except Hunter synd, which is X-linked recessive)
- (Hemapoietic: SCA, thalasemias)
environ that affect expressivity and penetrance
familial hypercholesterolemia: depend on dietary uptake of lipids
ADD w variable expressivity
neurofibromatosis type 1
Point mutations: nonconservative missense
SCA
FActor V leiden
(just general missense: MFS, contractural arachnodactlyl, Niemann-Pick Type A)
LSDs
Tay Sachs
Niemann Pick A and B and C
Gaucher dis
MPS
X-linked dominant dis
Fragile X syndrome?
Vitamin D resistant rickets
Pliotropism
SCA
Mendelian disorders: Enzymatic defects
- build up of substrate: galactosemia, LSD, GSD
- decreased amt of end product:albanism, leish nyhan synd
- failure to deactivate tissue damaging enz: a1-antitrypsin deficiency
ADD from deleterious mutation
- if involved in feedback: familial hypercholesterolemia: sense less cholest –> body prod more
- if involved in a greater strucutre: osteogenesis imperfecta bc 1 of 3 collagens in matrix messed up
Mendelian disorders: defects in receptors/transport mechanisms
FH
CF
Genetic heterogeneity
- childhood blindness
- DM
- MFS (of fibrillin locus)
Frameshift mutation
Tay-Sachs: 4bp insertion in hexoaminadase A
Dis’s caused by genomic imprinting
prader willi synd, angelman synd
Dis’s caused by trinucelotide repeats
fragile x synd, fragile X tremor/ataxia
