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Human Genomics > Module 11 > Flashcards

Module 11 Flashcards

1
Q

Primer Extension

A

A primer is hybridized upstream of the nucleotide. If there is a match the primer with anneal and extend

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2
Q

PCR-RFLP/Snip-SNP

A

PCR amplifies the SNP site and run through gel electrophoresis. If a SNP is present, two samples will have different banding patterns.

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3
Q

Molecular beacon

A

small fragment of ssDNA that forms a hairpin loop with annealed quencher (3’) and reporter (5’) on each end

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4
Q

Hybridization-based

A

Beacon created as a complementary base pair to a target DNA. When mixed with DNA sample, if it matches the beacon it will stretch out the hairpin and fluoresce.

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5
Q

Pathogen detection

A

bacterial or viral nucleic acid based techniques

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6
Q

qPCR

A

faster, more precise, sensitive, quantitative, detects a small amount. Usually coupled with a beacon

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7
Q

chromosomal aberration

A

mutations big enough to be seen on a chromosome under microscope

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8
Q

cytogenetics

A

field linking chromosomal variations with phenotypes

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9
Q

karyotype

A

chromosome chart observing abnormalities

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10
Q

syntenic block

A

region in which two genes appear in the same order in two different species

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11
Q

FISH

A

fluorescence in situ hybridization used to visualize chromosomes

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12
Q

comparative genomic hybridization

A

technique that can detect gains or losses of chromosomal region associated with a phenotype

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13
Q

non-allelic homologous recombination

A

the cause of CNVs occurring during meiosis. misalignment of homologous chromatids during recombination

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14
Q

next generation sequencing technology

A

genome fragments sequenced and mapped to a reference. if no CNVs they will match up

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15
Q

atypical chromosomes

A

number of chromosomes is not 46 or rearranged material

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16
Q

balanced chromosomes

A

normal amount of genetic information but atypical structure. translocations and inversions

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17
Q

unbalanced chromosomes

A

atypical structure resulting in excess or deficit genetic material. duplications and deletions

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18
Q

polyploidy

A

extra set of chromosomes

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19
Q

triploid

A

three sets of chromosomes

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20
Q

aneuploidy

A

missing or extra one chromosome. nondisjunction

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21
Q

trisomy

A

three copies of a chromosome

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22
Q

trisomy 13

A

patau syndrome

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23
Q

trisomy 18

A

edward syndrome

24
Q

trisomy 21

A

down syndrom

25
Q

down syndrome critical region

A

near the end of chromosome 21 contains 3 genes associated with symptoms. extra copy affects gene dosage

26
Q

sex chromosome aneuploids

A

nondisjunction in sperm or egg. phenotypically normal

27
Q

chromosome shorthand

A

total chromosome number, sex chromosome constitution, atypical autosomes (47, SS, +21)

28
Q

translocation carriers

A

region of chromosome are swapped resulting in gain or loss of genes

29
Q

robertsonian translocation

A

two short arms break off and long arms are combined

30
Q

reciprocal translocation

A

chromosomes exchange parts and rearrange. same amount of genetic material

31
Q

genetic counseling

A

provides pedigree construction

32
Q

prenatal genetic counseling

A

empiric and family-based risks

33
Q

family history of inherited disease

A

explains mode of inheritance and risk

34
Q

genetic testing

A

various methods to use genetic information for identifying diseases

35
Q

testing

A

ordered due to history or symptom

36
Q

screen

A

not based on specific medical reason

37
Q

MoM value

A

multiple of the median indicates how far an individual’s test results deviate from the norm

38
Q

indirect method

A

measure levels of biochemicals in blood correlated with chromosomal composition

39
Q

direct method

A

DNA stains and probes distinguish banding patterns

40
Q

amniocentesis

A

fetal cells and fluid removed from uterus for karyotyping

41
Q

chronic villus sampling

A

cell samples from chronic villi in placenta for karyotyping

42
Q

cell-free fetal DNA

A

fetal cell-free DNA in maternal blood can be karyotyped

43
Q

non-invasive prenatal testing

A

cell-free fetal DNA testing

44
Q

preimplantation genetic diagnosis

A

in vitro fertilization, genetic analysis before implantation

45
Q

newborn screening

A

screen metabolite and DNA to identify high risk of inherited diseases called actionable

46
Q

biochemicals

A

products of genes that may be missing metabolic pathways

47
Q

PKU

A

enzyme breaks down phenylalanine is missing

48
Q

babyseq project

A

boston babies sequenced to determine feasibility of entire genome sequencing of babies

49
Q

chromosome microarray analysis

A

detects CNVs associated with autism and intellectual disabilities

50
Q

exome sequencing

A

sequencing coding regions of genes

51
Q

carrier testing

A

detection of recessive mutations

52
Q

predisposition testing

A

individual has allele associated with increased risk of dieases

53
Q

predictive testing

A

individual has allele determines having disease

54
Q

OMIM

A

online mendelian inheritance in man resource

55
Q

Taqman

A

realtime PCR

56
Q

FRET

A

fluorescence resonance energy transfer from reporter to quencher

Human Genomics (12 decks)

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