Shit I don't know

Question 1

epigenetic changes are good for therapeutic potential because

Answer 1

they are erasable

Question 2

DMD chromosome

Answer 2

Xp21.2

Question 3

DMD in the the

Answer 3

exon

Question 4

alpha thal

Answer 4

deletion in a-gene

Question 5

turners is a

Answer 5

chrom deletion

Question 6

hereditary neuropathy with liability is a

Answer 6

deletion of gene

Question 7

charcot marie tooth is

Answer 7

duplication

Question 8

AML two mutations

Answer 8

1. PML RARa (15/17 translocation)

2. ABL1 BCR (9/22 translocation)

Question 9

DS infants/children have a 20-100 fold risk for ____ and 500 x risk for _____

Answer 9

ALL or AML

AMKL

Question 10

SMA chrom

Answer 10

5q 13

Question 11

digeorge chrom

Answer 11

22q

Question 12

neurofibromatosis type 1 chrom

Answer 12

17q11.2

Question 13

achondroplasia chrom

Answer 13

4p16.3

1138 nucleotide

Question 14

PKD1 chrom

Answer 14

16p13.3

Question 15

PKD2 chrom

Answer 15

4q22.1

Question 16

huntingtons chrom

Answer 16

4p16.3

Question 17

fragile X chrom

Answer 17

X q 27.3

Question 18

hemophilia A chrom

Answer 18

X q 28

Question 19

hemohilia gene

Answer 19

F8

Question 20

retinoblastoma chrom

Answer 20

13

Question 21

retinoblastoma gene

Answer 21

RB1

Question 22

5% of the time you get repeat in child with no family history of disease is because

Answer 22

one parent is mosaic in gonadal tissue

usually father

Question 23

typically ___ allele is referred to as imprinted

Answer 23

repressed

Question 24

_____ risk for X-linked disease for no family history

Answer 24

2/3

Question 25

DNA damaging agents

Answer 25

ionizing radiation

Question 26

Marfan chrom

Answer 26

15

Question 27

Marfan gene

Answer 27

FBN1

Question 28

paternal age

Answer 28

achondroplasia marfan apert

Question 29

evolutionary increasing gene copy, if you go too fast, get

Answer 29

macrocephaly and autism

Question 30

retrotransposition is

Answer 30

intersertional inactivation of genes

Question 31

ring chrom circularizes and acquires

Answer 31

kinetochore activity for stable transmission

Question 32

a contiguous gene is

Answer 32

an abnormal phenotype caused by over expression or loss of neighboring genes

Question 33

examples of contiguous gene

Answer 33

1. velocardiofacial syndrom | 2. digeorge

Question 34

velocardiofacial syndrome chrom

Answer 34

del 22q11

Question 35

velocaardiofacial symptoms

Answer 35

cleft palate | cardiac septal defects

Question 36

digeorge symptoms

Answer 36

absent thymus/parathyroid

Question 37

Down syndrome testing

Answer 37

``` gCG, AFP estriol inhibit measuring nuchal folds in ultrasound ```

Question 38

most common medical problem in down syndrome

Answer 38

cardio abnormalities with AV canal

Question 39

evolution brain increase

Answer 39

increase 1 q21.1 instability duplications= macrocephayl and autism deletions= microcephaly, schizophrenia increase in 1q21.2 increases DUF1220 copy #, which leads to evolutionary advantage

Question 40

CYP450 gene products are

Answer 40

active in liver and intestinal epithelium

Question 41

40% of all drugs=

Answer 41

CYP450

Question 42

___ needed to convert codeine to morphine

Answer 42

CYP26

Question 43

most CYP's ____ drugs

Answer 43

inactivate

Question 44

poor metabolizers expected mutations

Answer 44

1. frameshift 2. splicing 3. nonsense 4. missense

Question 45

ultrafast metabolizer expected mutations

Answer 45

1. increased copy number | 2. missense

Question 46

procollagen is composed of

Answer 46

two pro-a1 chains and one pro-a2 chain

Question 47

osteogenesis imperfecta type one mechanism

Answer 47

1. premature termination codons (nonsense and frameshift) in COL1A1 2. mRNA unstable 3. mRNA degrades 4. reduction in normal COL1A1 protein 5. autosomal dominant

Question 48

PMP 22 duplication

Answer 48

charcot marie tooth

Question 49

PMP 22 deletion

Answer 49

HNPP

Question 50

Charcot marie tooth mutation

Answer 50

gain of function Autosomal dominant

Question 51

CMT symptoms

Answer 51

weak lower extremities mild sensory loss muscle atrophy

Question 52

osteogenesis type 1 vs 2/3

Answer 52

type 1 is loss of function, half normal amount of total collagen, mild 2/3 novel protein function, normal amount of trimers, but they are abnormal. Very severe

Question 53

decreased amount of protein accounts for

Answer 53

a-thal monosomy tumor supressor mutation

Question 54

increased amount of protein accounts for

Answer 54

trisomy | CMT 1A

Question 55

inappropriate expression accounts for

Answer 55

HPFH | oncogenes

Question 56

hexosaminidase pattern Tay sachs

Answer 56

B variant | AB variant

Question 57

hexosaminidase pattern | sandhog disease

Answer 57

0 variant