Genetic Diseases Flashcards
More common Uniform expression Complete penetrance Early in life Proteins show loss of function ALL inborn errors of metabolism
Autosomal recessive
Most common malformation in Down syndrome (Trisomy 21)
Septum primum - type ASD
Down syndrome has increased risk for (2)
ALL
Alzheimer’s disease
Autosomal trisomy with pregnancy quad screen of Low alpha-fetiprotein High beta-HCG Low estriol High inhibin A
Down syndrome
Autosomal trisomy with pregnancy quad screen of Low alpha-fetiprotein Low beta-HCG Low estriol Normal inhibin A
Edwards syndrome
Autosomal trisomy with pregnancy quad screen of Normal alpha-fetiprotein Normal beta-HCG Normal estriol Normal inhibin A
Patau’s syndrome
What is the diagnostic biophysical hallmark of cystic fibrosis?
Raised transepithelial electric potential difference
Chloride sweat test > 70mmol/L
This channel actively secretes Cl in lungs and GI, actively reabsorbs Cl from sweat. This is the defect seen in cystic fibrosis.
Cystic Fibrosis Transmembrane Regulator (CFTR) gene
Patients with cystic fibrosis have increased risk of recurrent pulmonary infections involving what organisms?
Pseudomonas
Staphylococcus aureus
Defective collagen in Ehler Danlos syndrome
Type 1 and 3
Lesch-Nyhan Syndrome is an x-linked recessive disorder with the absence of what enzyme? (Mental retardation, neuro deficits, self-mutilation, gout)
Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT) involved in salvage pathway in purine synthesis
Most abundant CHON in the body
Collagen
Most abundant amino acids in the body
Glycine
Proline
Hydroxylysine
Hydroxyproline
Reduced penetrance
Variable expressivity
Delayed onset
Reduced production or inactive protein
Autosomal dominant
