Exam1 Flashcards
Three pathological hallmarks of MS
Inflammatory reaction, scarring of tissue, at least two neurologic problems separate in space and time
Pathogenesis
The biological mechanism that leads to a diseased state
Calcitriol
Active hormone in Vitamin D
7-dehydrocholesterol
Circulating precursor in Vitamin D
Mendelian inheritance
The manner by which genes and traits are passed from parents to their children
Autosomal dominant
One mutated copy of the gene in each cell is sufficient for a person to be affected
Autosomal recessive
Both copies of the gene in each cell have mutations
Complex genetic disorder
Multiple polymorphic genes influence susceptibility and interact with environmental factors
Polymorphism of a gene
The occurrence of two or more genetically determined phenotypes in a certain population
Single nucleotide polymorphism (SNP)
Genomic variant in which a single base in the DNA differs from the usual base at that position
Gene
A portion of DNA that determines a certain trait; expression of traits
Allele
Specific form of a gene
HLA-DRB1 gene
Provides instructions for making a protein that plays a critical role in the immune system; helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders such as viruses and bacterias
HLA-DRB1*1501 allele
Different version of the HLA-DRBA1 gene; most strongly linked genetic factor for the risk of MS
What was the main gene identified by GWAS screens?
HLA-DRB1 locus
MHC locus
Plays an important role in discriminating between self and non-self
What is the function of MHC I?
Antigen presentation
What is the function of MHC II?
Initiation of antigen-specific immune response
HLA-DRB1*1401
Gene associated with a lower risk of MS
HLA-DRB1*0801
Gene associated with a higher risk of MS
HLA-A*0301
Gene that predisposes to MS
HLA-A0201, HLA-C05
Genes that have a protective effect
A mutation in which gene makes African Americans more at risk of the secondary progressive form of MS?
HLA-DRB5 null mutation
Less CYP27B1 results in ….?
Less vitamin D