Genetics Flashcards
Mutation in Marfan syndrome
Fibrillin 1
Most common cardiac malformation in Downs syndrome
Complete atrioventricular septal defect
Mutation in Edwards syndrome
Trisomy 18
Mutation in Noonans syndrome
Defect in RAS pathway
MOA of MircoRNA
MicroRNAs (miRNAs) are small, endogenous, non-coding RNAs (length 18 to 24 nucleotides) that regulate gene expression by binding to the untranslated regions of mRNAs and inducing mRNA degradation or inhibiting protein translation. .
Gene causing MEN1 and gene causing MEN2
MEN1 = MEN1 gene MEN2 = C-RET gene
Symptoms of Wolfram (or DIDMOAD) syndrome
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
WFS1 gene
Marfan’s criteria
FBN1/ Fibrillin1 gene
Aortic root dilation
Ectopia lentis
Other features:
- Wrist-thumb sign
- pectus excarvatum
- scoliosis
Disease associated with sinus inversus
Primary ciliary dyskinesia
What is Lyonisation
X-inactivation
What is heteroplasmy
Having multiple different sets of mitochondrial DNA in one cell - affects the severity of mitochondrial diseases.
Alzheimers gene and chromosome location
APP gene. Ch 21.
Increased Alzheimers in Downs syndrome.
In females, what is the most common medical complication of Fragile X premutations?
Premature menopause
What is the primary disease mechanism for the CAG gene expansion that causes
Huntington disease?
Protein gain of toxic function
Mitochondrial disease inheritance
ALL; Mitochondrial disorders can be cause by mutations in the mitochondrial genome or in the
nuclear genome. When the mutations are in nuclear genes, they can be inherited as autosomal
dominant, autosomal recessive, or X-linked.
