Module 11

Question 1

Primer Extension

Answer 1

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

Question 2

PCR-RFLP/Snip-SNP

Answer 2

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

Question 3

Molecular beacon

Answer 3

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

Question 4

Hybridization-based

Answer 4

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.

Question 5

Pathogen detection

Answer 5

bacterial or viral nucleic acid based techniques

Question 6

qPCR

Answer 6

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

Question 7

chromosomal aberration

Answer 7

mutations big enough to be seen on a chromosome under microscope

Question 8

cytogenetics

Answer 8

field linking chromosomal variations with phenotypes

Question 9

karyotype

Answer 9

chromosome chart observing abnormalities

Question 10

syntenic block

Answer 10

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

Question 11

FISH

Answer 11

fluorescence in situ hybridization used to visualize chromosomes

Question 12

comparative genomic hybridization

Answer 12

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

Question 13

non-allelic homologous recombination

Answer 13

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

Question 14

next generation sequencing technology

Answer 14

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

Question 15

atypical chromosomes

Answer 15

number of chromosomes is not 46 or rearranged material

Question 16

balanced chromosomes

Answer 16

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

Question 17

unbalanced chromosomes

Answer 17

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

Question 18

polyploidy

Answer 18

extra set of chromosomes

Question 19

triploid

Answer 19

three sets of chromosomes

Question 20

aneuploidy

Answer 20

missing or extra one chromosome. nondisjunction

Question 21

trisomy

Answer 21

three copies of a chromosome

Question 22

trisomy 13

Answer 22

patau syndrome

Question 23

trisomy 18

Answer 23

edward syndrome

Question 24

trisomy 21

Answer 24

down syndrom

Question 25

down syndrome critical region

Answer 25

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

Question 26

sex chromosome aneuploids

Answer 26

nondisjunction in sperm or egg. phenotypically normal

Question 27

chromosome shorthand

Answer 27

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

Question 28

translocation carriers

Answer 28

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

Question 29

robertsonian translocation

Answer 29

two short arms break off and long arms are combined

Question 30

reciprocal translocation

Answer 30

chromosomes exchange parts and rearrange. same amount of genetic material

Question 31

genetic counseling

Answer 31

provides pedigree construction

Question 32

prenatal genetic counseling

Answer 32

empiric and family-based risks

Question 33

family history of inherited disease

Answer 33

explains mode of inheritance and risk

Question 34

genetic testing

Answer 34

various methods to use genetic information for identifying diseases

Question 35

testing

Answer 35

ordered due to history or symptom

Question 36

screen

Answer 36

not based on specific medical reason

Question 37

MoM value

Answer 37

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

Question 38

indirect method

Answer 38

measure levels of biochemicals in blood correlated with chromosomal composition

Question 39

direct method

Answer 39

DNA stains and probes distinguish banding patterns

Question 40

amniocentesis

Answer 40

fetal cells and fluid removed from uterus for karyotyping

Question 41

chronic villus sampling

Answer 41

cell samples from chronic villi in placenta for karyotyping

Question 42

cell-free fetal DNA

Answer 42

fetal cell-free DNA in maternal blood can be karyotyped

Question 43

non-invasive prenatal testing

Answer 43

cell-free fetal DNA testing

Question 44

preimplantation genetic diagnosis

Answer 44

in vitro fertilization, genetic analysis before implantation

Question 45

newborn screening

Answer 45

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

Question 46

biochemicals

Answer 46

products of genes that may be missing metabolic pathways

Question 47

PKU

Answer 47

enzyme breaks down phenylalanine is missing

Question 48

babyseq project

Answer 48

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

Question 49

chromosome microarray analysis

Answer 49

detects CNVs associated with autism and intellectual disabilities

Question 50

exome sequencing

Answer 50

sequencing coding regions of genes

Question 51

carrier testing

Answer 51

detection of recessive mutations

Question 52

predisposition testing

Answer 52

individual has allele associated with increased risk of dieases

Question 53

predictive testing

Answer 53

individual has allele determines having disease

Question 54

OMIM

Answer 54

online mendelian inheritance in man resource

Question 55

Taqman

Answer 55

realtime PCR

Question 56

FRET

Answer 56

fluorescence resonance energy transfer from reporter to quencher