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Block 4 New > Mutation And Diseases > Flashcards

Mutation And Diseases Flashcards

1
Q

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

A

Frameshift

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2
Q

What is a conserved region

A

Exons

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3
Q

In recessive disorders what function is disrupted ?

A

Enzymes and transporters

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4
Q

In dominant disorders what function is disrupted ?

A

Protien and transcription factors

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5
Q

Loss of function
Haplosufficiency ?

A

Recessive

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6
Q

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

A

Dominant

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7
Q

In what heterogeneity does the diseases remain same ?

A

Locus specifc

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8
Q

What are the diseases related with recessive inheritance mutation ?

D- BD
E- TAMP

A

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

ENZYMOPATHIES

  1. PHENYLKETONURIA
    2.TETRAHYDROBIOPTIEN DEFICIENCY
  2. ALBINISM
  3. MSUD
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9
Q

What are the dominant LOF disease mutations?

CAVN

A

Nail patella syndrome
Cleidocranial dysplasia
Acuture intermittent poryphoria
Variegate poryphoria

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10
Q

What are the gain of function mutation disorders ?

ATC

A

Achondroplasia
Thanotrophic dysplasia
CATSHL SYNDROME

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11
Q

Dominant negative disease

A

OI

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12
Q

Co dominat disease ?

1

A

Alpha 1 antitrypsin deficiency

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13
Q

Regulatory region and chromosomal mutation disorders

PLLCW

A

Polydactyl
Lactose intolerance
Lactase penetrance
Camopelic dysplasia
William burren syndrome

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14
Q

What is the difference between dmd and bmd?

A

Dmd - no dystrophy
Bmd - partial functional dystrophin

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15
Q

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

A

More than 36

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16
Q

How do you differentiate between Inframe deletion and outframe deletion ?

A

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

17
Q

What is the mechanism of DYSTROPHIN gene therapy ?

A

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

PREVENTS ASSWMBY OF SPLISOSOMES

EXON SKILLING & RESTORES READING FRAME

18
Q

Drug used for DYSTROPHIN therapy ?

A

Exondys 51 (Eteplinsen)

19
Q

Which variant of PKU is milder and what is the deficiency

A

Tetrahydrobiopten deficiency (B4)
Neurotransmitter deficiency
NOT PAH DEFICIENCY

20
Q

What are the forms of albinism ?

A

AD
X
AR

21
Q

What are the two types of albinism ?

A

Oca1 and oca2

Oca1- tyrosine deficiency
Oca2- residual activity present

22
Q

What are the CF of MSUD ?

A

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

23
Q

Why are achondroplasias only heterozygous ?

A

Homozygous are more lethal and die fastee

24
Q

What is the mutation in nail patella syndrome ?

A

LMX1B
AD

25
Q

Mutation in Cleidocranial dysplasia ?

A

RUNX2 MUTATION

26
Q

What are the difference between Acute intermittent poryphoria and Variegate poryphoria

A

(AIP)
DEF of Poryphobilnogem deaminase
Wine red urine
No Photosensitivity
Haploinsufficiency

(VP)
DEF of protoporyphyrogenin OXIDASE
Hallucinations
Photosensitivity
Reduced penetrance

27
Q

What does fGFR3 GAIN OF FUNCTION DO ?

A

INHIBITS GROWTH

28
Q

Mutation in achondroplasia ?

A

G380R in ACH
GLYCINE TO ARGINE

29
Q

Mutation in Thanotrophic dysplasia ?

A

R2486
ARGINE TO CYSTEINE
MORE SEVERE THAN ACHONDROPLASIA
EXTREMELY SHORT

30
Q

Mutation of CATSHL SYNDROME ?

A

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

31
Q

What is the mutation in Alpha 1 antitrypsin deficiency ?

A

SNERPINA
AUTOSOMAL CODOMINANT

F
M
S
Z

32
Q

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

A

ZZ

33
Q

Campomelic dysplasia mutation ?

A

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

34
Q

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

A

DUPLICATION -
SEVERE LANGUAGE DELAY
SYRONG SPATIAL SKILL

DELETION-
STRONG LANGUAGE EXPRESSEION
WEAK SPATIAL SKILL

Block 4 New (9 decks)

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