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PRIN > PRIN 3 Genes & their Functions > Flashcards

PRIN 3 Genes & their Functions Flashcards

1
Q

Multi-factorial Inheritance

A

interplay of genes and environment
(eg) height …starvation will cause to not fulfill genetic potential
(eg) Hypertension
disease is familial, but follows no Mendelian pattern

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2
Q

Explain “Threshold Model” of Multifactorial Inheritance

A

(eg) cleft lip

many factors lead up to the closing of the lip

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3
Q

Recurrence Risk

of Multi-factorial Inheritance

A

1 sibling affected = 2 to 4%
2 sibling affected = 10%
sib & affected parent = 10%

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4
Q

How many genes in common does a parent have with their child?

A

1/2

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5
Q

How many genes in common does a person have with their sibling?

A

1/2

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6
Q

How many genes in common does a person have with their uncle?

A

1/4

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7
Q

How many genes in common does a grandparent have with their grandchild?

A

1/4

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8
Q

How many genes in common does a person have with their cousin?

A

1/8

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9
Q

Multi-factorial Inheritance

Recurrence Risk & Gender

A

Some clinical cases occur more frequently in one sex than the other
**there is a higher risk if affected relative is of the less frequently affected sex

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10
Q

General Ballpark for Multifactorial Risk

A

2 to 4%

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11
Q

UAR

A

Upstream Activator Region

  • site of recruitment & binding of transcription factors culminating in the assembly of the protein complex at the TATA box
  • enables a faster assembly speed than without the upstream UAR
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12
Q

What does the rate of Transcription depend on?

A

Assembly of the Pre-inititiation complex at TATA box

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13
Q

Which polymerase is involved in Transcription

A

RNA Polymerase 2

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14
Q

HbH disease

A

a-Thalassemia
only have 1 of 4 alpha-globin genes
moderate hemolytic anemia

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15
Q

Symptoms of having only 3 of 4 alpha-globin genes

A

a-Thalassemia

minimal symptoms, totally fine

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16
Q

Symptoms of having only 2 of 4 alpha-globin genes

A

a-Thalassemia
mild anemia
microcytic RBC

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17
Q

Symptoms of having 0 of 4 alpha-globin genes

A

a-Thalassemia

fetus born to term, but then dies

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18
Q

Hemophilia A

How is it inherited?

A

caused by the absence of
Blood clotting protein
(Factor 8) which is located on the X Chromosome close to the centromere

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19
Q

Genomic Sequence

A

contains both introns & exons

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20
Q

Coding Sequence

A

contains ONLY exons

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21
Q

Nonsense Mutation

A

base pair substitution results in early stop

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22
Q

HBB c.118 C>T

What does this mean?

A

HBB= Human gene code
c.118 = coding DNA numbering
C changed to T

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23
Q

Missence Mutation

A

Base pair substitution results in aa change

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24
Q

Example of Missence Mutation

A

Sickle Cell Anemia

Glutamic Acid > Valine due to single base change

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25
Q

Cryptic Splice Site

A

site that becomes the new target for Spliceosome in the event that a mutation has occurred
***results in nonfunctional protein

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26
Q

Triplet Repeat Expansion

A

Normal genes contain a variable (but stable) number of triplet repeats
mutation can lead to amplification of the number of these repeats# making it unstable

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27
Q

STRs

A

Single Tandem Repeats
amplified by PCR and run on gel to help identify individuals
useful in forensics

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28
Q

Hardy Weinberg Equation

A

P + Q = 1
p2 + 2pq + q2 = 1
carrier frequency = 2pq
(assume p = 1)

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29
Q

X-linked recessive conditions that are lethal

A

2/3 chance mother is a carrier

1/s chance its spontaneous

30
Q

Clinical Features of Anemia

A 
fatigue
renal failure
tachycardia
pallor
jaundice (hemolytic anemia)
acute back pain
31
Q

SSA

Hemotological Findings

A 
High HbS
Reticulocytsis
Macrocytosis
Fragile RBC
Presence of sickled RBCs
High uncongugated bilirubin
32
Q

Splenomegaly

A

enlargement of spleen

33
Q

Location of Spleen

A

Left Upper quadrant

34
Q

Thalassemia

Clinical Findings

A

Splenomegaly
Retarded growth and development
enlarged, distorted cheekbones, other bony prominences

35
Q

Thalassemia

Clinical Findings

A 
Anisocytosis, microcytosis
target cells
reticulocytosis
higher presence of HbA2 to compensate
Low MCV/MCH
fragile RBC
high uncongugated bilirubin and ferritin levels
36
Q

Anisocytosis

A

RBCs of unequal size

37
Q

Reticulocytosis

A

increase in reticulocytes

immature RBC

38
Q

Hba

A

2 alpha + 2 beta

39
Q

Hba2

A

2 alpha + 2 delta

40
Q

Hbf

A

2 alpha + 2 gamma

gamma switches over to beta after birth

41
Q

HbaS

A

sickle cell trait

42
Q

HbSS

A

sickle cell disease

43
Q

MCV

A

Mean corpuscular volume

average volume of RBC

44
Q

MCH

A

Mean corpuscular hemoglobin

average mass of hemoglobin per RBC

45
Q

What is the mode of inheritance in beta-thalassemia?

A

Autosomal recessive

46
Q

What type of mutation occurs in Alpha-thalassemia?

A

Gene deletions

47
Q

What type of mutation occurs in Beta-thalassemia?

A

Point Mutation

48
Q

What type of mutation occurs in Fragile X syndrome?

A

Triplet repeat expansion

49
Q

What type of mutation occurs in Huntington’s disease?

A

Triplet repeat expansion

50
Q

What type of mutation occurs in SSA?

A

Point Mutation Glu>Val

***Leads to formation of abnormal globin chain

51
Q

What type of mutation occurs in Myotonic Dystrophy?

A

Triplet repeat expansion

52
Q

Q39X (HBB c. 118 C>T)

What kind of mutation is this?

A

Nonsence

X=Stop

53
Q

What is linkage analysis?

A

indirect method for carrier detection using family studies

54
Q

What does the use of polymorphic markers in linkage analysis allow us to do?

A

trace inheritance in a pedigree

55
Q

What is the percent chance that recombination occurred between the a genetic marker and the trait it is following?

A

1%

It’s a 99% chance that the allele is still with the maker

56
Q

What is the inheritance pattern for Huntington’s disease?

A

autosomal dominant

57
Q

Characteristic of X-linked dominant inheritance

A

ALL daughters of affected males are affected

58
Q

If the population frequency of a disease is 1/100. What is the chance that someone with no family history carries the allele?

A

square-root of 100.
(p-squared = 100).
Therefore, allele frequency (p) = 10

59
Q

What is the inheritance pattern for cleft lip?

A

Multifactorial!

60
Q

Who gets clubfoot?

A

Clubfoot occurs MORE in males than in females. Therefore, if a female has it in the family, then there is a greater risk that a male will be born with it.

61
Q

What causes splenomegaly in SSA?

A

Increased clearance of abnormal RBCs

62
Q

β+/β or βo/β

A

B-THAL MINOR

  • One normal and one mutant β globin allele
  • Lower than normal MCV
  • Increased Hem.A2
  • Decreased Hem.A
63
Q

β+/β+ or βo/β+

A

B-THAL INT.

*May need occasional transfusions

64
Q

βo/βo

A

B-THAL MAJOR

  • BOTH mutant β globin alleles
  • Increased Hem.F
  • splenomegaly, & death before 20
  • Transfusions cause iron overload
65
Q

Compare genetic causes:

a-thal, b-tha & SCA

A

a-thal: gene deletion

b-thal & SSA: point mutation

66
Q

What is a nonsense mutation?

A

POINT Mutation resulting in early stop

67
Q

Highly Elevated Hbf
Decreased Hba
Elevated Hba2
suggests …

A

B-Thal Major

68
Q

Decreased Hba
Elevated Hba2
suggests …

A

B-Thal Minor

69
Q

In a-thal, what gene is missing?

A

Alpha-thalassemia is caused by deletion of the alpha-globin gene cluster

70
Q

In beta-thalassemia major there is:

A

inadequate production of normal beta chains

PRIN (13 decks)

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