Path - Genes Flashcards
1
Q
p53
A
Osteosarcoma
2
Q
t(12:16)
A
Myxoid liposarcoma
3
Q
t(X:18)
A
Synovial sarcoma
4
Q
t(11:22)
A
Ewing’s sarcoma
5
Q
t(2:13)
A
Rhabdomyosarcoma
6
Q
t(12:22)
A
Clear cell sarcoma
7
Q
t(9:22)
A
Chondrosarcoma(myxoid variant)
8
Q
FGFR-3
A
Achondroplasia
9
Q
FGFR-2
A
Apert Syndrome
10
Q
PMP22
A
CMT (80-90%)
11
Q
COMP
A
Pseudoachondroplasia
12
Q
COL2A1
A
SED congenita/tarda
13
Q
Type II collagen
A
Kniest’s syndrome
14
Q
FGFR-3 mutation effect
A
inhibition of chondrocytes proliferation
15
Q
COMP
A
MED - Type 1
16
Q
Type IX collagen
A
MED - Type 2
17
Q
PTHrP
A
Jansen’s metaphyseal chondroplasia
18
Q
Type X Collagen
A
Schmid’s metaphyseal chondroplasia
19
Q
CBFA-1 / RUNX2
A
Cleidocranial dysplasia
20
Q
COL1A1/COL1A2
A
Osteogenesis Imperfecta
21
Q
DTD (sulfate transport)
A
Diastrophic dysplasia
22
Q
Frataxin
A
Friedreich’s Ataxia
23
Q
connexin
A
CMT (10-20%)
24
Q
X-linked Recessive Diseases
A
Duchenne/Becker
Hunter’s
Hemophila
SED Tarda
25
Autosomal Recessive
```
Diastrophic Dysplasia
Friedreich's Ataxia
Gauchr's
SMA
Sickle cell
OI (type II and III)
Hypophosphatasia
Osteopeterosis
```
26
FGFR-2 mutation effect
inhibition of chondrocytes proliferation
27
PMP22 mutation effect
Nerve demyelination
28
COMP mutation effect
Abnormal cartilage formation - pseudoachondroplasia.
| Type II collagen - MED - Type I
29
COL2A1 / Type II collagen mutation effect
Defect in cartilage matrix formation
30
PTHrP mutation effect
Functional defect in parathyroid hormone
31
Type X collagen mutation effect
Defect in cartilage matrix formation
32
CBFA-1 / RunX2 mutation effect
Impaired intramembranous ossification
33
COL1A1 / COL1A2 mutation effect
Type I collagen affected
34
DTD (sulfate transport protein) mutation effect
Defect in sulfaction of proteoglycan
35
Connexin gene mutation effect
Nerve demyelination
36
Gene associated with t(11:22) translocation
Fusion protein (EWS-FLI1)
37
Gene associated with t (2:13) translocation
Pax3-FKHR
38
Gene associated with t (12:16) translocation
TLS-CHOP
39
Gene associated with t (X:18) translocation
SYT-SSX1,2, or 4 fusion protein
40
Gene associated with t (12:22) translocation
Fusion protein EWS-ATF1
41
Gene associated with t (9:22) translocation
Fusion protein EWS-CHN)
42
Low Phos
High Alk Phos
Normal PTH
Normal Vitamin D
Vitamin D resistent Rickets
| Hypophosphatemic
43
```
Low Calcium
Low Phos
High Alk Phos
High PTH
Low Vit D
```
Vitamin D Deficient Rickets
| Nutritional
44
```
Low Ca
Low Phos
High Alk phos
High PTH
Low 1,25(OH) Vit D
```
Type I Vit D dependent
45
Low Ca
Low Phos
High Alk phos
Low 1,25(OH) Vit D
Type II Vitamin D Dependent
46
High Ca
High Phos
Low Alk Phos
Normal PTH
Hypophosphatasia
47
Low Ca
High Phos
High Alk Phos
High PTH
Renal Osteodystrophy
48
High Ca
Low Phos
High Alk Phos
High PTH
Hyperparathyroidism
49
retinoblastoma prtoein (pRB-1) is a recessive supressor gene that is mutated in which tumor?
35% of osteosarcoma
50
p53 is a dominant supressor gene that is mutated in which tumors?
50% of all tumors,
osteosarcoma (20-65%),
chondrosarcoma
51
western blot
detects protein
52
southern blot
detects DNA
53
northern blot
detects RNA
54
RT-PCR
reverse transcription PCR, highly sensitive detecting low copy number of RNA, reverse transcribed into cDNA
55
siRNA
blocks translation of mRNA
