Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

genetics concepts > Exam 1 Vocab > Flashcards

Exam 1 Vocab Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

lmp

A

latent membrane protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

latency 3

A

EBNA and LMP, lymphoblastoid cell lines and post transplant lymphoproliferative disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

latency 2

A

EBNA1 and LMPs, post transplant lymphoproliferative disorders such as hodgkins lymphoma , peripheral t cell lymphoma, and extranodal nasal NK/ T cell lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

latency 1

A
  • just with ebna 1, Burkitt lymphomas and primary effusion lymphoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

oncogenic viruses

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

twin design

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

polygenic inheritance

A

each of the polygenes exerts a small (but additive) effect on the continuous phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

oligogenic inheritance

A

middle ground between monogenic and polygenic inheritance. Assumes that condition is defined by some loci be more influential than others (like epistasis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

heritability

A

the proportion of phenotypic variation in a population that is attributable to genetic variation among individuals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

total phenotypic variance

A

sum of the variance due to genetic factors and to environmental factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

linkage analysis

A

quantifies the correlation between the trait and the marker at the family level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

association study

A

quantifies the correlation between the trait at the population level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

IBD (identical by descent)

A

aka shared segments are identified areas of positional linkage detected computationally with genehunter or mapmaker/SIRS software

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

LOD (logarithm of odds)

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

association studies

A

test whether single locus alleles or genotype frequencies are different between 2 groups (usually diseased subjects and healthy controls)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

linkage disequilibrium

A

markers close together on chromosomes are often transmitted together, yielding a non zero correlation between the alleles. presence of linkage and association

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

NOD2

A

nucleotide binding oligomerization domain containing 2) plays an important role in defending the intestinal wall against bacterial infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

linkage

A
  • 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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

association

A

property of alleles, a specific allele of a gene or marker is found as co inherited with a disease or trait in a population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

punch drunk syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

MODY

A

(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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

hirschprung disease

A

absence of ganglion cells in the parts of the colon and rectum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

hyperhomocysteinemia

A

caused by a deficiency of B vitamins and folate in diets, hypothyroidism, MTHFR

24
Q

DTC testing

A
  1. 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.
25
Q

GINA

A

(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

26
Q

mutation

A

a structural change in genomic DNA which can be transmitted from a parental cell to its daughter cell

27
Q

substitution

A

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.

28
Q

silent mutation

A

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

29
Q

sickle cell anemia

A

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

30
Q

familial hypercholesterolemia

A

nonsense mutation, protein is too short and cant fold properly. LDLRs never make it to membrane and get degraded in ER

31
Q

cystic fibrosis

A

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

32
Q

nonsense mediated decay

A

(NMD)- detects the presence of a premature stop codon in the mRNA and initiates and initiates mRNA degradation

33
Q

regulatory point mutation

A

affects promoters and other regulatory sequences of the gene. Increases or decreases the expression level for a certain gene

34
Q

duffy blood group

A
  • an antigen and a receptor for chemokines and p. vivax malaria parasite
35
Q

phenylketonuria

A

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

36
Q

small deletions and insertions

A

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

37
Q

duchenne dystrophy

A

missense mutation, changes conformation of protein and become non-functional

38
Q

becker dystrophy

A

in frame deletion, middle part of protein is gone, protein is functional

39
Q

large deletions and insertions

A

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

40
Q

unstable repeat expansion

A

suppresses expression of the gene or results in production of abnormal toxic product

41
Q

osteogenesis imperfecta

A

brittle bone disease a deficiency of collagen type 1

42
Q

huntington disease

A

mutated HD protein is able to suppress activity of transcription factors

43
Q

gain of function mutations

A

mutation that confers new or enhanced activity on a protein. Less common than loss of function

44
Q

spontaneous mutation rate

A

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

45
Q

soft conditions

A

associated with decreased fertility to maintain these prevalences, the diseases must be replenished by new mutations

46
Q

paternal age effect disorders

A
  • small group of disorders, including apert syndrome, achrondroplasia, Costello syndrome,
47
Q

functionally neutral mutations

A
  • do not accumulate and are associated with a very low risk of individual transmission
48
Q

typical PAE mutations

A

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

49
Q

comet assay

A

standard technique for evaluation of DNA damage/repair in biomonitoring and genotoxicity testing

50
Q

forced gain of mutations

A

median level, x-ray, chemical carcinogens, early stages of cancer and germplasm and germplasm in exposed people

51
Q

random gain of mutations

A

low level, natural cause, early stages of natural cancer in elderly: spontaneous mutations in germplasm

52
Q

very high rate of mutations

A

cell lost one or more major mechanisms of DNA repair, certain genetic syndromes, late stages of almost any cancer

53
Q

genomic instability

A

occurs when DNA repair mechanisms are lost, results in massive amount of genetic mutations

54
Q

DNA checkpoint

A

control mechanism that makes each stage of the cell cycle dependent on the successful completion of an earlier stage

55
Q

ataxia

A

loss of motor control owing to purkinje cell loss, masked faces, oculomotor apraxia

56
Q

telangectasias

A

dilated small blood vessels, skin and ocular, onset 4-6 years

57
Q

diabetes type 2

A

normal amount of insulin secreted by the pancreas is not enough stimulus for the cells to make them uptake the glucose

genetics concepts (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions