Mutation And Diseases Flashcards
What is a mutation caused by insertion or deletion which is not a multiple of 3?
Frameshift
What is a conserved region
Exons
In recessive disorders what function is disrupted ?
Enzymes and transporters
In dominant disorders what function is disrupted ?
Protien and transcription factors
Loss of function
Haplosufficiency ?
Recessive
Loss of function - Haploinsufficiency
Gain of function
Dominant (-ve)?
Dominant
In what heterogeneity does the diseases remain same ?
Locus specifc
What are the diseases related with recessive inheritance mutation ?
D- BD
E- TAMP
DYSTROPHIN PROTIEN
1. DUCHENE MUSCULAR DYSTROPHY
2. BECKER MUSCULAR DYSTROPHY
ENZYMOPATHIES
- PHENYLKETONURIA
2.TETRAHYDROBIOPTIEN DEFICIENCY - ALBINISM
- MSUD
What are the dominant LOF disease mutations?
CAVN
Nail patella syndrome
Cleidocranial dysplasia
Acuture intermittent poryphoria
Variegate poryphoria
What are the gain of function mutation disorders ?
ATC
Achondroplasia
Thanotrophic dysplasia
CATSHL SYNDROME
Dominant negative disease
OI
Co dominat disease ?
1
Alpha 1 antitrypsin deficiency
Regulatory region and chromosomal mutation disorders
PLLCW
Polydactyl
Lactose intolerance
Lactase penetrance
Camopelic dysplasia
William burren syndrome
What is the difference between dmd and bmd?
Dmd - no dystrophy
Bmd - partial functional dystrophin
How many mutations are required for A DMD in central rod domain?
More than 36
How do you differentiate between Inframe deletion and outframe deletion ?
Inframe - multiple of 3 (bMD)
Outframe - not multiple of 3 (DMD)
What is the mechanism of DYSTROPHIN gene therapy ?
RNA blocking oligonuclotides block splice site (EXON SPLICE ENHACER) ESE
PREVENTS ASSWMBY OF SPLISOSOMES
EXON SKILLING & RESTORES READING FRAME
Drug used for DYSTROPHIN therapy ?
Exondys 51 (Eteplinsen)
Which variant of PKU is milder and what is the deficiency
Tetrahydrobiopten deficiency (B4)
Neurotransmitter deficiency
NOT PAH DEFICIENCY
What are the forms of albinism ?
AD
X
AR
What are the two types of albinism ?
Oca1 and oca2
Oca1- tyrosine deficiency
Oca2- residual activity present
What are the CF of MSUD ?
AR
SWEET URINE
MENTAL RETARD
BRANCHED CHAIN KETO ACID DEHYDRGN
TREAT = ILV AVOIDING
Why are achondroplasias only heterozygous ?
Homozygous are more lethal and die fastee
What is the mutation in nail patella syndrome ?
LMX1B
AD
Mutation in Cleidocranial dysplasia ?
RUNX2 MUTATION
What are the difference between Acute intermittent poryphoria and Variegate poryphoria
(AIP)
DEF of Poryphobilnogem deaminase
Wine red urine
No Photosensitivity
Haploinsufficiency
(VP)
DEF of protoporyphyrogenin OXIDASE
Hallucinations
Photosensitivity
Reduced penetrance
What does fGFR3 GAIN OF FUNCTION DO ?
INHIBITS GROWTH
Mutation in achondroplasia ?
G380R in ACH
GLYCINE TO ARGINE
Mutation in Thanotrophic dysplasia ?
R2486
ARGINE TO CYSTEINE
MORE SEVERE THAN ACHONDROPLASIA
EXTREMELY SHORT
Mutation of CATSHL SYNDROME ?
LOSS OF FUNCTION OF FGFR3
TALL
HEARING LOSS
CAMTODACTYL (BENT fingers)
What is the mutation in Alpha 1 antitrypsin deficiency ?
SNERPINA
AUTOSOMAL CODOMINANT
F
M
S
Z
What is the most severe CODOMINANT type of ALPHA 1 ANTITRYPSIN DEFICIENCY ?
ZZ
Campomelic dysplasia mutation ?
SOX-9 ACTS DOWNSTREAM OF SRY IN MALE SEXUAL DEVELOPMENT PATHWAY
Majored difference between duplication and deletion of chromosome 7q in WBS ?
DUPLICATION -
SEVERE LANGUAGE DELAY
SYRONG SPATIAL SKILL
DELETION-
STRONG LANGUAGE EXPRESSEION
WEAK SPATIAL SKILL
