clinical DNA dx

Question 1

single nucleotide base is changed

Answer 1

point mutations

Question 2

replace one aa with another

Answer 2

missense mutation

Question 3

create a premature stop codon

Answer 3

nonsense mutation

Question 4

same aa produced despite difference in DNA sequence

Answer 4

silent mutation

Question 5

absence of a portion of DNA sequence

Answer 5

Deletion

Question 6

a constellation of findings due to a specific deletion the encompasses several genes

Answer 6

microdeletion

Question 7

not visible karyotype

Answer 7

microdeletion

Question 8

type of insertion due to repeated regions of DNA, often hole genes

Answer 8

duplications

Question 9

duplications have to happen right next to each other?

Answer 9

no! may happen in tandem or sited elsewhere in the genome

Question 10

Charcot-Marie tooth

Answer 10

duplication of PMP22 on chromosome 17

Question 11

Williams beurene syndrome

Answer 11

chromosome 7 microdeletion

Question 12

mutations that result in extra DNA sequence

Answer 12

insertion

Question 13

frameshift mutations can occur by mutiple issues

Answer 13

• deletions -insertions -splicing errors

Question 14

affect binding of RNA pol to promoter site

Answer 14

promoter mutations

Question 15

frigle X, mytoninc dystrophy, Hnt’ disease

Answer 15

trinucleotide repeat expansion

Question 16

Anticipation

Answer 16

expansion of the repeat throughout generations

Question 17

null mutations

Answer 17

loss of function

Question 18

PKU

Answer 18

null mutations

Question 19

haploinsufficiency

Answer 19

Autosomal Dominant

Question 20

half of normal product is insufficient for normal function

Answer 20

haploinsufficiency

Question 21

familial hypercholesterolemia

Answer 21

haploinsufficiency

Question 22

dominant negative

Answer 22

autosomal dominant

Question 23

mutant protein interferes with function of the protein produced by the normal allele

Answer 23

dominant negative

Question 24

marfan syndrome

Answer 24

dominant negative

Question 25

usually due to a very particular change in the gene

Answer 25

gain of function

Question 26

achondroplasia

Answer 26

gain of function

Question 27

FGFR3 mutations

Answer 27

receptor is stuck in the "on" position, which prevents chondrocytes proliferations

Question 28

Challenges of testing (6)

Answer 28

(1) Genetic heterogeneity (2) allelic disorder (3) variable expression (4) non-paternity (5) concerns regarding genetic discrimination (6) mitochondria

Question 29

DNA Specimens- sources

Answer 29

White blood cells- dna only found in WBC

Question 30

\>3MB test

Answer 30

karyotype

Question 31

detects known submicroscopic deletion and duplication syndromes

Answer 31

FISH

Question 32

22q11.2

Answer 32

Di George

Question 33

angelman/Prader-willi test

Answer 33

bisulfite DNA testing

Question 34

UBE3A

Answer 34

gene for angelman

Question 35

sweat test

Answer 35

Gold standard for CF

Question 36

allele specific oligonucleotide testing for

Answer 36

CF to identify the delta F508 or other common mutations related to this disease

Question 37

paternity test

Answer 37

short tandem repeat polymorphisms

Question 38

multiple ligation-dependent probe amplification

Answer 38

deletions in a gene

Question 39

conservative missense mutations

Answer 39

properties of the amino acid remain the same

Question 40

non-conservative missense mutations

Answer 40

properties of the AA are different

Question 41

large deletions often result in the loss of \_\_\_\_\_\_\_\_

Answer 41

multiple contiguous genes

Question 42

some crohn's disease are associated with an

Answer 42

insertion mutation

Question 43

what is usually the outcome of a frameshift mutation

Answer 43

stop codon introduced leading to a truncated polypeptide

Question 44

can result in reduced production of mRNA and decreased production of a protein

Answer 44

promoter mutations

Question 45

causes premature aging and bone marrow disease

Answer 45

dyskeratosis congenita

Question 46

null mutations are

Answer 46

classic autosomal recessive

Question 47

null mutations lead to

Answer 47

loss of function

Question 48

example of genetic heterogeneity

Answer 48

kidney disease caused by multiple genes

Question 49

different disorders can result from mutations in the same gene

Answer 49

allelic disorder

Question 50

In Multiple ligation-dependent probe amplification, multiple\_\_\_\_\_\_ can be amplified at _____ and run out of a gel to determine __________ of region

Answer 50

In MLPA, multiple exons can be amplified at once and run out on a gel to determine presence of region

Question 51

Answer 51

Silent mutation

Question 52

Answer 52

deletion mutation

Question 53

Answer 53

FISH analysis