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Genetics in Human Health > ST2 notes > Flashcards

ST2 notes Flashcards

1
Q

allelic heterogeneity

A

different mutations of the same gene

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2
Q

locus heterogeneity

A

same mutation in different genes

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3
Q

Bardet-Biedl syndrome (BBS)

A

15 loci are responsible for cilia functions making it a pleiotropic disorder as many different body systems are impaired

shows locus heterogeneity

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4
Q

pleiotropy

A

one genes influences two or more seemingly unrelated phenotypic traits

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5
Q

Sensorineural deafness

A

same mutation in 28 different genes

autosomal recessive but two different parents can have a normal child if they have different disease genes

normal child will be a double heterozygous as they will have two different mutant genes

shows locus heterogeneity

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6
Q

genomic imprinting

A

offspring’s gene expression is parent-specific due to inactivation of the opposite parent’s allele

caused by DNA methylation that suppresses transcription resulting in alterations in gene expression

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7
Q

imprinted gene

A

methylated and inactive in somatic cells

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8
Q

maternal imprinting

A

maternally derived allele inactivated

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9
Q

paternal imprinting

A

paternally derived allele inactivated

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10
Q

Prader-Willi syndrome

A

maternal imprinting

deletion of paternal chromosome 15q11

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11
Q

Angelman syndrome

A

paternal imprinting

deletion of maternal chromosome 15q11

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12
Q

uniparental disomy

A

two copies of a chromosome are inherited from one parent and no copies from the other parent

caused by non-disjunction followed by loss of genetic information

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13
Q

heterodisomy

A

meiosis I non-disjunction

both homologs from one parent

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14
Q

isodisomy

A

meiosis II non-disjunction

one chromosome is duplicated

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15
Q

modifier gene

A

gene that alters the expression of a human gene at another locus that in turn causes a genetic disease

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16
Q

epistasis

A

effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes (modifier genes)

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17
Q

linkage analysis

A

family-based

makes use of pedigrees for mapping of monogenetic diseases

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18
Q

association analysis

A

population-based mapping comparing the frequencies of alleles in affected individuals to unaffected controls for complex diseases

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19
Q

haplotype

A

series of alleles at linked loci that are co-inherited on a single chromosome

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20
Q

recombination frequency (theta)

A

estimate of genetic distance

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21
Q

theta = 0.5

A

NR = R

loci very far apart

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22
Q

theta = 0

A

only NR

loci very close together

23
Q

theta < 0.5

A

NR>R

in-between

24
Q

LOD score (Z)

A

likelihood ratio / odds ratio

25
Z > or equal to 1
suggests linkage
26
Z > or equal to 3
strong evidence of linkage
27
Z < 1
suggests linkage less likely
28
Z < -2
significant evidence against linkage
29
exome
all the exons in all of the genes in an individual's body
30
complex/multifactorial diseases
caused by many different genetic factors - polygenic influenced by environmental and chance factors disease manifests once certain threshold is reached
31
polygenic
inheritance and expression of a phenotype is determined by many different genes at different loci
32
continuous/quantitative traits
normal phenotypic characteristics that everyone has but with differing degrees can be measured - height, blood pressure
33
discontinuous/dichotomous/qualitative traits
disease is either present or absent congenital disease or diseases that develop later in adult life predisposition is inherited - relatives share more susceptibility genes and environmental factors
34
empiric risk
chance that a disease will occur or reoccur in a family higher risk for more closely related individuals
35
heritability
indicates the importance of genetic factors compared to environmental factors
36
familial aggregation
affected individuals cluster in families indicates genetic component - families have predisposition for qualitative diseases because of shared alleles
37
relative risk (lambda)
measures familial aggregation lambda = prevalence of disease in relative of affected person/prevalence of disease in general population larger lambda = greater familial aggregation lambda = 1 - recurrence risk for relatives of affected individual is the same for any other individual in the general population
38
common disease-common variant hypothesis
disease risk in specific individuals is due to aggregation of common variants
39
common disease-rare variant hypothesis
rare variants are expected to be more deleterious and high penetrant
40
protective factors/variants
reduce the risk for common disease protective factors for one disease can be a susceptibility factor for another disease
41
gene therapy
genetic alteration of the cells of a patient with a genetic disorder to achieve a therapeutic effect
42
gene augmentation
replaces a missing gene product by inserting a normal gene into a somatic cell best for LOF mutations
43
gene silencing
targets pathogens in infectious diseases silences active oncogenes silences GOF mutant alleles in inherited diseases
44
in vivo
cells are modified within the patient's body difficult to monitor success
45
ex vivo
cells are removed from patient, genetically modified in cell culture, selected, multiplied and returned to patient cells can be analyzed in depth before treating patient
46
non-viral delivery
synthetic vesicles known as liposomes form spontaneously when certain lipids are mixed in aqueous solution lipid coat allows DNA to survive in vivo, it binds to cells and allows DNA to enter can accept large DNA inserts does not elicit immune response efficiency of transport low
47
malignant neoplasia/cancer
consequence of genetic damage whose cumulative effect results in unrestrained cell growth, tissue invasion, and metastasis
48
sarcoma
mesenchymal tissue - fat, bone, muscle
49
carcinoma and adenocarcinoma
epithelial tissue
50
leukemia and lymphoma
blood forming tissue
51
pronto-oncogenes
components of signaling pathways that regulate cell proliferation and differentiation
52
tumor suppressor genes
block uncontrolled cell proliferation participate in pathways that regulate the cell cycle regulate upstream growth signaling pathways may induce apoptosis
53
gatekeepers
classical tumor suppressor central role in regulating cell proliferation by regulating cell cycle and growth mutations lead directly to tumor development

Genetics in Human Health (4 decks)

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