genetics Flashcards
(29 cards)
in population, ____ mutation is acceptable
0.1% genetic
if the mutation occurs at least ___ of the population, it is now term as ____
1%
genetic polymorphism
it is the simplest form of polymorphisms
single nucleotide polymorphism
refers to the presence of two or more variant forms of a specific DNA sequence
polymorphism
compromising the most abundant type of genetic variation
single nucleotide polymorphism
variant form of a gene; always a pair
allele
pair of allele that is carried by an organism “genetic make up”
genotype
observable physical properties
phenotype
occurs in periodontal disease is a consequence overwhelming
tissue distruction
it stimulates the proliferation of keratinocytes, fibroblasts and endothelial cells of the periodontal tissues
IL-1
critical component in the homeostasis of periodontal tissues and its unrestricted production may lead to tissue damage
IL-1
upregulates matrix metalloproteinases and downregulates tissue inhibitors of metalloproteinase production
IL-1B
effective stimulator of bone resorption
IL-1B
stimulate the release of several inflammatory mediators, prostaglandin E2(PGE2), matrix metalloproteinases-8 (MMPs) and receptor activator of nuclear factor kappa-B ligand (RANKL) and facilitating soft and hard tissue destruction
IL-1B and TNF-a
___enhance:
bacterial of phagocytes
recruit additional innate cell polulations to sites of infection
induce dendritic cell maturation and direct the subsequent specific immune response to the invading microbes
pro-inflammatory cytokines
commin pro-inflammatory cytokines and mediators that have central role in periodontal tissue destruction
Interleukin (IL-1)
tumor necrosis factor-a (TNF-a)
prostaglandin E2 (PGE2)
Matrix metalloproteinases (MMPs)
stimulating the suppression of lymphosyte production
decreasing the collagen synthesis of fibroblasts and influencing osteoclastic bone resorption
prostaglandin E2 (PGE2)
a severity factor in adult periodontal disease
interleukin -1
factors that regulate the immune system
intrinsic
acquired
powerful molecular technique to analyze hundreds of thousands or even millions of variations in genomic DNA simultaneously
Genomewide association study (GWAS)
adult periodontitis have ___ heritability which was unaltered after adjustments in the behavioral factors
50%
it was found out that ___ of the relative have the same diagnosis to their respective probands
10%
causes connective tissue deformities
Marfan syndrome
mutations in the genes responsible for collagen biosynthesis
Ehler-danlos syndrome