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BIOCHEMISTRY -GENETICS Flashcards

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1
Q

CO DOMINANCE

A

Both alleles contribute to phenotype of same heterozygote

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2
Q

Blood groups, alpha 1 antitrypsin deficiency and HLA groups are examples of?

A

Co-dominance

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3
Q

Patients with same genotype and varying phenotype

A

VARIABLE EPRESSIVITY

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4
Q

PLEIOTROPY

A

One gene multiple effects

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5
Q

Increasing severity in succeeding generations is known as

A

ANTICIPATION

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6
Q

LINKAGE MUTATION

A

Tendencies of certain alleles at 2 linked loci to occur together more or less often thn

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7
Q

Trinucleotide repeat diseases is an example of?

A

Anticipation

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8
Q

MOSAICISM

A

Presence of genetically distinct cell line in the same individual

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9
Q

Types of mosaicsm

A

Somatic - mutation arises from multiple errors in fertilization and propagates through multiple organs and tissues
Gonandal - mutation in egg/sperms

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10
Q

U/L cafe au lait spots, polyostatic fibrous dysplasia and endocrinopathy - features of what syndrome

A

Mc.Cune Albright syndrome

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11
Q

Mc.Cune Albright syndrome occurs due to mutation in?

A

Gs (guanine nucleotide) binding protein

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12
Q

Albinism is an example of

A

Locus heterogeneity

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13
Q

Example of allelic heterogeneity

A

Beta thalassemia

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14
Q

mtDNA (normal + mutate DNA) passed on from mother to all children is known as

A

HETEROPLASMY

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15
Q

UNIPARENTAL DISOMY

A

2 copies from the same parent

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16
Q

How to maintain Hardy Weinberg equilibrium (p:q ratio)

A

No mutation
No natural selection
Random mating
No net migration

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17
Q

GERMLINE MOSAICISM

A

Neither parent has manifestations but siblings do

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18
Q

Examples of uniparental disomy

A

Prader Willi syndrome
Angelman syndrome
(usually results in normal progeny)

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19
Q

One gene copy silenced by methylation and other copy expressed is known as?

A

IMPRINTING

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20
Q 
Hyperphagia
Obesity
Intellectual disorientation
Hypogonadism
Hypotonia seen in which syndrome?
A

PRADER WILI SYNDROME

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21
Q

Mutation or deletion of which chromosome occurs in Prader Wili syndrome

A

Chromosome 15 (paternal origin)

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22
Q

Inappropriate laughter
Seizure
Ataxia
Severe intellectual disability seen in which syndrome?

A

AngelMan syndrome

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23
Q

Which gene is silenced in AngelMan syndrome

A

UBE3A (paternal origin)

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24
Q

When paternal allele is deleted/mutated?

A

Prader Wili Syndrome

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25
When maternal allele is deleted/mutated?
AngelMan Syndrome
26
AUTOSOMAL DOMINANT
Defects in structural genes. (1/2 children affected)
27
AUTOSOMAL RECESSIVE
With 2 heterozygous (carrier) parents (1/4-affected, 1/2-carriers, 1/4-neither)
28
X LINKED RECESSIVE
Sons of heterozygous mothers have 50% chances of being affected. (no male to male transmission)
29
X LINKED DOMINANT
Transmitted through both parents.
30
MITOCHONDRIAL INHERITANCE
Transmitted only through the mother. All offsprings of affected females shows signs of the disease.
31
Family history is crucial for what kind of inheritance.
AUTOSOMAL DOMINANT
32
Consanguineous marriages have a high risk of what kind of inheritance
AUTOSOMAL RECESSIVE
33
Vitamin D resistant rickets are known as
Hypophosphatemic rickets
34
What is seen in muscle biosy of Mitochondrial Myopathy (MELAS SYNDROME)
Ragged red fibers
35
Mothers transmit 50% daughters and 50% sons, | Fathers transmit 100% daughters and no sons - seen in what kind of inheritance?
X LINKED DOMINANT
36
Females should be homozygous to be affected by mothers for what kind of inheritance?
X LINKED RECESSIVE
37
``` Achondroplasia Familial adenomatouspolyposis Hereditary spherocytosis Huntington disease NF type 1, NF type 2 Tuberous sclerosis come under what type of inheritance? ```
AUTOSOMAL DOMINANT
38
``` Cystic fibrosis Hemochromatosis Kartagner syndrome Phenyketonuria Sickle cell anemia Thalassemia Wilson disease come under what kind of inheritance? ```
AUTOSOMAL RECESSIVE
39
Mutation of which chromosome occurs in cystic fibrosis?
Chromosome 7 (CFTR gene)
40
Defect in which of the following occurs in cystic fibrosis?
``` Defect in chloride channels Increased intracellular chloride ions Increased sodium re-absorption Increased H2O re-absorption Abnormally thick mucus ```
41
Multifactoral management of cystic fibrosis includes
Chest physiotherapy Albuterol Aerosolised dornase alpha Hypertonic saline Purpose - facilitates mucus clearance
42
How is cystic fibrosis with Phe50S deletion managed?
Lumacraftor and Ivacaftor (opens chloride channels)
43
______ has anti-inflammatory action and _____ slows progression - in cystic fibrosis
1- Azithromycin , 2-Ibuprofen
44
Trisomy 21 is
Downs syndrome
45
Trisomy 18 is
Edward syndrome
46
Trisomy 21 is
Patau syndrome
47
``` Intellectual disability Prominent occiput Low set ears Congenital heart disease Clenched fists Rocker bottom feet seen in? ```
EDWARDS SYNDROME
48
``` Microcephaly Microophthalmia Cleft lip/palate Polydactyly Cutis Aplasia Polycystic kidney disease Rocker bottom feet seen in? ```
PATAU SYNDROME
49
No 1 genetic intellectual disability?
DOWNS SYNDROME
50
No 2 genetic intellectual disability?
FRAGILE X SYNDROME
51
Features of Downs syndrome
1st trimester USG - increased nuchal transluency and hypoplastic bone Increased hCG Increased inhibin
52
``` Intellectual disability Mongoloid (flat) facies Single palmar crease Prominent epicanthal folds Duodenal atresia Brucefield spots Increased gap between first and second toes seen in? ```
DOWNS SYNDROME
53
Downs syndrome is associated with which GI disorder?
Duodenal atresia | Hirschsprung disease
54
Downs syndrome is associated with what kind of malignancy (increased risk)?
AML and ALL
55
Downs syndrome is associated with what CNS disorder?
Alzheimer's disease
56
Robertsonian translocation involves chromosomes ________
13, 14, 15, 20, 21
57
Unbalanced robertsonian translocation can result in
Miscarriage Stillbirth Chromosomal imbalance (Down syndrome, Patau syndrome)
58
Deletion of which chromosome occurs in cri du chat syndorme?
Chromosome 15
59
``` Microcephaly Intellectual disability High pitch cry Meowing VSD (cardiac abnormality) seen in? ```
CRI DU CHAT SYNDROME
60
``` Elfin facies Intellectual disability Hypercalcemia Extreme friendliness with strangers CVS problems (supravalvular aortic stenosis, renal artery stenosis) Well developed verbal skills seen in? ```
WILLIAMS SYNDROME
61
Deletion of which chromosome occurs in which syndrome?
WILLIAMS SYNDROME
62
``` G6PD deficiency Hunter syndrome Hemophilia Lesch nyhan syndrome Duchenne muscular dystrophy Bruton agammaglobulinemia ```
X LINKED RECESSIVE DISORDER
63
What type of mutation occurs in duchenne muscle dystrophy?
Frameshift mutation
64
Weakness - begins in pelvic girdle Pseudohypertrophy (fibrofatty replacement of muscles) of calf muscles Waddling gait seen in?
Duchenne muscle dystrophy
65
What is Gower's sign? | Where is it seen?
Use of upper extremities to stand up
66
Gower's sign is seen in?
Polymyopathies | Duchenne muscle dystrophy
67
Commonality between becker and duchenne muscular dystrophies?
Both are X linked disorders
68
Cause of death in Duchenne muscular dystrophy
Dilated Cardiomyopathy
69
``` Myotonia Muscle wasting Cataract Testicular atrophy Frontal balding Arrhythmia seen in? ```
Myotonic type 1 muscle dystrophy
70
Myotonic type 1 muscle dystrophy is what type of inheritance?
Autosomal dominant
71
``` Regression in motor, verbal and cognitive abilities Ataxia Seizures Growth failure Stereotyped hand wringing seen in? ```
Rett syndrome
72
Long face Enlarged jaw MV prolapse Enlarged testes (post pubertal macro orchidism) seen in?
Fragile X syndrome
73
``` Hungtinton disease Myotonic dystrophy Fragile X syndrome Freidriche ataxia The above are what type of diseases? ```
TRINUCLEOTIDE REPEAT EPANSION DISEASES
74
Trinucleotide repeat of - Huntington disease
CAG
75
Trinucleotide repeat of - myotonic dystrophy
CTG
76
Trinucleotide repeat of - fragile X syndrome
CGG
77
Trinucleotide repeat of - Freidriche ataxia
GAA
78
Hallmark of X linked disorders
Absence of Father to Son transmission

GENETICS (4 decks)

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