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PRIN > PRIN 3 Genes & their Functions > Flashcards

PRIN 3 Genes & their Functions Flashcards

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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
Cryptic Splice Site
site that becomes the new target for Spliceosome in the event that a mutation has occurred ***results in nonfunctional protein
26
Triplet Repeat Expansion
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
27
STRs
Single Tandem Repeats amplified by PCR and run on gel to help identify individuals useful in forensics
28
Hardy Weinberg Equation
P + Q = 1 p2 + 2pq + q2 = 1 carrier frequency = 2pq (assume p = 1)
29
X-linked recessive conditions that are lethal
2/3 chance mother is a carrier | 1/s chance its spontaneous
30
Clinical Features of Anemia
``` fatigue renal failure tachycardia pallor jaundice (hemolytic anemia) acute back pain ```
31
SSA | Hemotological Findings
``` High HbS Reticulocytsis Macrocytosis Fragile RBC Presence of sickled RBCs High uncongugated bilirubin ```
32
Splenomegaly
enlargement of spleen
33
Location of Spleen
Left Upper quadrant
34
Thalassemia | Clinical Findings
Splenomegaly Retarded growth and development enlarged, distorted cheekbones, other bony prominences
35
Thalassemia | Clinical Findings
``` Anisocytosis, microcytosis target cells reticulocytosis higher presence of HbA2 to compensate Low MCV/MCH fragile RBC high uncongugated bilirubin and ferritin levels ```
36
Anisocytosis
RBCs of unequal size
37
Reticulocytosis
increase in reticulocytes | immature RBC
38
Hba
2 alpha + 2 beta
39
Hba2
2 alpha + 2 delta
40
Hbf
2 alpha + 2 gamma | gamma switches over to beta after birth
41
HbaS
sickle cell trait
42
HbSS
sickle cell disease
43
MCV
Mean corpuscular volume | average volume of RBC
44
MCH
Mean corpuscular hemoglobin | average mass of hemoglobin per RBC
45
What is the mode of inheritance in beta-thalassemia?
Autosomal recessive
46
What type of mutation occurs in Alpha-thalassemia?
Gene deletions
47
What type of mutation occurs in Beta-thalassemia?
Point Mutation
48
What type of mutation occurs in Fragile X syndrome?
Triplet repeat expansion
49
What type of mutation occurs in Huntington's disease?
Triplet repeat expansion
50
What type of mutation occurs in SSA?
Point Mutation Glu>Val | ***Leads to formation of abnormal globin chain
51
What type of mutation occurs in Myotonic Dystrophy?
Triplet repeat expansion
52
Q39X (HBB c. 118 C>T) | What kind of mutation is this?
Nonsence | X=Stop
53
What is linkage analysis?
indirect method for carrier detection using family studies
54
What does the use of polymorphic markers in linkage analysis allow us to do?
trace inheritance in a pedigree
55
What is the percent chance that recombination occurred between the a genetic marker and the trait it is following?
1% | It's a 99% chance that the allele is still with the maker
56
What is the inheritance pattern for Huntington's disease?
autosomal dominant
57
Characteristic of X-linked dominant inheritance
ALL daughters of affected males are affected
58
If the population frequency of a disease is 1/100. What is the chance that someone with no family history carries the allele?
square-root of 100. (p-squared = 100). Therefore, allele frequency (p) = 10
59
What is the inheritance pattern for cleft lip?
Multifactorial!
60
Who gets clubfoot?
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
What causes splenomegaly in SSA?
Increased clearance of abnormal RBCs
62
β+/β or βo/β
B-THAL MINOR * One normal and one mutant β globin allele * Lower than normal MCV * Increased Hem.A2 * Decreased Hem.A
63
β+/β+ or βo/β+
B-THAL INT. | *May need occasional transfusions
64
βo/βo
B-THAL MAJOR * BOTH mutant β globin alleles * Increased Hem.F * splenomegaly, & death before 20 * Transfusions cause iron overload
65
Compare genetic causes: | a-thal, b-tha & SCA
a-thal: gene deletion b-thal & SSA: point mutation
66
What is a nonsense mutation?
POINT Mutation resulting in early stop
67
Highly Elevated Hbf Decreased Hba Elevated Hba2 suggests ...
B-Thal Major
68
Decreased Hba Elevated Hba2 suggests ...
B-Thal Minor
69
In a-thal, what gene is missing?
Alpha-thalassemia is caused by deletion of the alpha-globin gene cluster
70
In beta-thalassemia major there is:
inadequate production of normal beta chains

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