Mutation And Diseases

Question 1

What is a mutation caused by insertion or deletion which is not a multiple of 3?

Answer 1

Frameshift

Question 2

What is a conserved region

Answer 2

Exons

Question 3

In recessive disorders what function is disrupted ?

Answer 3

Enzymes and transporters

Question 4

In dominant disorders what function is disrupted ?

Answer 4

Protien and transcription factors

Question 5

Loss of function
Haplosufficiency ?

Answer 5

Recessive

Question 6

Loss of function - Haploinsufficiency
Gain of function
Dominant (-ve)?

Answer 6

Dominant

Question 7

In what heterogeneity does the diseases remain same ?

Answer 7

Locus specifc

Question 8

What are the diseases related with recessive inheritance mutation ?

D- BD
E- TAMP

Answer 8

DYSTROPHIN PROTIEN
1. DUCHENE MUSCULAR DYSTROPHY
2. BECKER MUSCULAR DYSTROPHY

ENZYMOPATHIES

1. PHENYLKETONURIA
   2.TETRAHYDROBIOPTIEN DEFICIENCY
2. ALBINISM
3. MSUD

Question 9

What are the dominant LOF disease mutations?

CAVN

Answer 9

Nail patella syndrome
Cleidocranial dysplasia
Acuture intermittent poryphoria
Variegate poryphoria

Question 10

What are the gain of function mutation disorders ?

ATC

Answer 10

Achondroplasia
Thanotrophic dysplasia
CATSHL SYNDROME

Question 11

Dominant negative disease

Answer 11

OI

Question 12

Co dominat disease ?

1

Answer 12

Alpha 1 antitrypsin deficiency

Question 13

Regulatory region and chromosomal mutation disorders

PLLCW

Answer 13

Polydactyl
Lactose intolerance
Lactase penetrance
Camopelic dysplasia
William burren syndrome

Question 14

What is the difference between dmd and bmd?

Answer 14

Dmd - no dystrophy
Bmd - partial functional dystrophin

Question 15

How many mutations are required for A DMD in central rod domain?

Answer 15

More than 36

Question 16

How do you differentiate between Inframe deletion and outframe deletion ?

Answer 16

Inframe - multiple of 3 (bMD)
Outframe - not multiple of 3 (DMD)

Question 17

What is the mechanism of DYSTROPHIN gene therapy ?

Answer 17

RNA blocking oligonuclotides block splice site (EXON SPLICE ENHACER) ESE

PREVENTS ASSWMBY OF SPLISOSOMES

EXON SKILLING & RESTORES READING FRAME

Question 18

Drug used for DYSTROPHIN therapy ?

Answer 18

Exondys 51 (Eteplinsen)

Question 19

Which variant of PKU is milder and what is the deficiency

Answer 19

Tetrahydrobiopten deficiency (B4)
Neurotransmitter deficiency
NOT PAH DEFICIENCY

Question 20

What are the forms of albinism ?

Answer 20

AD
X
AR

Question 21

What are the two types of albinism ?

Answer 21

Oca1 and oca2

Oca1- tyrosine deficiency
Oca2- residual activity present

Question 22

What are the CF of MSUD ?

Answer 22

AR
SWEET URINE
MENTAL RETARD
BRANCHED CHAIN KETO ACID DEHYDRGN
TREAT = ILV AVOIDING

Question 23

Why are achondroplasias only heterozygous ?

Answer 23

Homozygous are more lethal and die fastee

Question 24

What is the mutation in nail patella syndrome ?

Answer 24

LMX1B
AD

Question 25

Mutation in Cleidocranial dysplasia ?

Answer 25

RUNX2 MUTATION

Question 26

What are the difference between Acute intermittent poryphoria and Variegate poryphoria

Answer 26

(AIP) DEF of Poryphobilnogem deaminase Wine red urine No Photosensitivity Haploinsufficiency (VP) DEF of protoporyphyrogenin OXIDASE Hallucinations Photosensitivity Reduced penetrance

Question 27

What does fGFR3 GAIN OF FUNCTION DO ?

Answer 27

INHIBITS GROWTH

Question 28

Mutation in achondroplasia ?

Answer 28

G380R in ACH GLYCINE TO ARGINE

Question 29

Mutation in Thanotrophic dysplasia ?

Answer 29

R2486 ARGINE TO CYSTEINE MORE SEVERE THAN ACHONDROPLASIA EXTREMELY SHORT

Question 30

Mutation of CATSHL SYNDROME ?

Answer 30

LOSS OF FUNCTION OF FGFR3 TALL HEARING LOSS CAMTODACTYL (BENT fingers)

Question 31

What is the mutation in Alpha 1 antitrypsin deficiency ?

Answer 31

SNERPINA AUTOSOMAL CODOMINANT F M S Z

Question 32

What is the most severe CODOMINANT type of ALPHA 1 ANTITRYPSIN DEFICIENCY ?

Answer 32

ZZ

Question 33

Campomelic dysplasia mutation ?

Answer 33

SOX-9 ACTS DOWNSTREAM OF SRY IN MALE SEXUAL DEVELOPMENT PATHWAY

Question 34

Majored difference between duplication and deletion of chromosome 7q in WBS ?

Answer 34

DUPLICATION - SEVERE LANGUAGE DELAY SYRONG SPATIAL SKILL DELETION- STRONG LANGUAGE EXPRESSEION WEAK SPATIAL SKILL