Exam 1 Vocab Flashcards
lmp
latent membrane protein
latency 3
EBNA and LMP, lymphoblastoid cell lines and post transplant lymphoproliferative disorders
latency 2
EBNA1 and LMPs, post transplant lymphoproliferative disorders such as hodgkins lymphoma , peripheral t cell lymphoma, and extranodal nasal NK/ T cell lymphoma
latency 1
- just with ebna 1, Burkitt lymphomas and primary effusion lymphoma
oncogenic viruses
infect normal cells and transform them into cancer cells due to expression or activation of viral oncogenes. Transformation can result in integration of viral genes or genomes into host genome
twin design
compares the similarity of identical twins (MZ) who share 100% of their genes to that of dizygotic (DZ) or fraternal twins who share only 50% of their genes
polygenic inheritance
each of the polygenes exerts a small (but additive) effect on the continuous phenotype
oligogenic inheritance
middle ground between monogenic and polygenic inheritance. Assumes that condition is defined by some loci be more influential than others (like epistasis)
heritability
the proportion of phenotypic variation in a population that is attributable to genetic variation among individuals
total phenotypic variance
sum of the variance due to genetic factors and to environmental factors
linkage analysis
quantifies the correlation between the trait and the marker at the family level
association study
quantifies the correlation between the trait at the population level
IBD (identical by descent)
aka shared segments are identified areas of positional linkage detected computationally with genehunter or mapmaker/SIRS software
LOD (logarithm of odds)
statistical estimate of whether two genes or a marker gene and a disease gene are likely to be located near each other on a chromosome and are therefore likely to be co-inherited
association studies
test whether single locus alleles or genotype frequencies are different between 2 groups (usually diseased subjects and healthy controls)
linkage disequilibrium
markers close together on chromosomes are often transmitted together, yielding a non zero correlation between the alleles. presence of linkage and association
NOD2
nucleotide binding oligomerization domain containing 2) plays an important role in defending the intestinal wall against bacterial infection
linkage
- property of the relative position of loci, not their alleles, linkage is the cosegregation of a disease or trait with a specific genomic region in multiple families
association
property of alleles, a specific allele of a gene or marker is found as co inherited with a disease or trait in a population
punch drunk syndrome
condition seen in boxers, often years after their retirement, presumably caused by repeated cerebral injury. Characterized by weakness in their lower limbs, unsteadiness of gait, slowness of muscular movements, tremors of hands, dysarthria, and slow thinking
MODY
(maturity onset diabetes of the young)- type 1 like diabetes that is inherited as autosomal dominant disease. Results from mutations from mody 1, 2, 3, 4
hirschprung disease
absence of ganglion cells in the parts of the colon and rectum
hyperhomocysteinemia
caused by a deficiency of B vitamins and folate in diets, hypothyroidism, MTHFR
DTC testing
- Direct to consumer (DTC) genetic testing- any genetic test accessible directly to the consumer without having to go through a health care professional. Tests range from testing for mutations linked to cystic fibrosis to hypertension predisposition. Lack of government regulation leads to risk of potential misinterpretation of genetic info.
GINA
(genetic information non-discrimination act)- prohibits group health plans and health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future
mutation
a structural change in genomic DNA which can be transmitted from a parental cell to its daughter cell
substitution
mutation example, only affect single codon, their effects may not be serious unless they affect an amino acid that is essential for the structure and function of the finished protein molecules.
silent mutation
mutation example, has no effect on the phenotype because changes in the third base of a codon have no effect on the phenotype due to degenerate nature of the genetic code
sickle cell anemia
a missense mutation, change in amino acid sequences causes hemoglobin molecules to crystallize when oxygen levels in the blood are low. Red blood cells sickle and get stuck in small blood vessels
familial hypercholesterolemia
nonsense mutation, protein is too short and cant fold properly. LDLRs never make it to membrane and get degraded in ER
cystic fibrosis
frameshift mutation, protein amino acid sequence is shifted, it is too short due to unexpected stop codon and cant fold properly. CFTR channel never make it into membrane and gets degraded in ER
nonsense mediated decay
(NMD)- detects the presence of a premature stop codon in the mRNA and initiates and initiates mRNA degradation
regulatory point mutation
affects promoters and other regulatory sequences of the gene. Increases or decreases the expression level for a certain gene
duffy blood group
- an antigen and a receptor for chemokines and p. vivax malaria parasite
phenylketonuria
common in Europeans, leads to truncated PAH protein that lacks the last 52 amino acids at the c-terminus. Results in an unstable protein without PAH activity
small deletions and insertions
22% of all mutations, results from a slippage of DNA replication, can be in frame if the number of deleted/inserted nucleotides is divisible by three
duchenne dystrophy
missense mutation, changes conformation of protein and become non-functional
becker dystrophy
in frame deletion, middle part of protein is gone, protein is functional
large deletions and insertions
range in size from 20 bp to 10 Mb, 5-6% of all known mutations, caused by unequal crossing over between homologous sequences and retrotranspositions
unstable repeat expansion
suppresses expression of the gene or results in production of abnormal toxic product
osteogenesis imperfecta
brittle bone disease a deficiency of collagen type 1
huntington disease
mutated HD protein is able to suppress activity of transcription factors
gain of function mutations
mutation that confers new or enhanced activity on a protein. Less common than loss of function
spontaneous mutation rate
1 in a billion bp or 1 in a million genes. Mistakes occur during DNA replication just before cell division. Natural error rate of DNA polymerase
soft conditions
associated with decreased fertility to maintain these prevalences, the diseases must be replenished by new mutations
paternal age effect disorders
- small group of disorders, including apert syndrome, achrondroplasia, Costello syndrome,
functionally neutral mutations
- do not accumulate and are associated with a very low risk of individual transmission
typical PAE mutations
confer a strong selective advantage to the mutant cell clone, leading over time to the formation of large mole like clones and an increase risk of transmission in older men
comet assay
standard technique for evaluation of DNA damage/repair in biomonitoring and genotoxicity testing
forced gain of mutations
median level, x-ray, chemical carcinogens, early stages of cancer and germplasm and germplasm in exposed people
random gain of mutations
low level, natural cause, early stages of natural cancer in elderly: spontaneous mutations in germplasm
very high rate of mutations
cell lost one or more major mechanisms of DNA repair, certain genetic syndromes, late stages of almost any cancer
genomic instability
occurs when DNA repair mechanisms are lost, results in massive amount of genetic mutations
DNA checkpoint
control mechanism that makes each stage of the cell cycle dependent on the successful completion of an earlier stage
ataxia
loss of motor control owing to purkinje cell loss, masked faces, oculomotor apraxia
telangectasias
dilated small blood vessels, skin and ocular, onset 4-6 years
diabetes type 2
normal amount of insulin secreted by the pancreas is not enough stimulus for the cells to make them uptake the glucose
