Diseases

Question 1

PKU is

Answer 1

Both parents are obligate carriers. Both are heterozygotes. Autosomal recesive

Question 2

recurrence risk

Answer 2

probability that offspring of a couple will have the genetic disease

• each reproductive event is statistically independent of all previous events

Question 3

The most common genetic (inherited) cause of cognitive/mental impairment is

Answer 3

autisms (Fragil-X)

Question 4

Neurofibromastosis type 1

Answer 4

Autosomal DOMINANT.

Gene defect: Mutation in a cell cycle regulatory protein. Variable expresion. Lisch nodules. (Eye pic)

Question 5

Marfan syndrome

Answer 5

Autosomal Dominant. GOOD example of of a genetic principle called PLEIOTROPY
- MYOPIA AND DETACHED LENS

Question 6

PLEIOTROPY

Answer 6

when a single mutation affects multiple organs systems a common fetaure of many genetic diseases

Question 7

Thalassemias

Answer 7

• Autosomal recessive

Genetic defect: Imbalance in globin chain synthesis

Question 8

X- Linked

Answer 8

is recessive

Question 9

Hemophilia

Answer 9

X-Linked example and most common cause of death is AIDS

Question 10

Example of Anticipations

Answer 10

Fragile X-linked syndrome, myotonic dystrophy, huntington disease

Question 11

Sickle cell and CF are

Answer 11

autosomal recesive

Question 12

Vitamin C

Answer 12

• Required as a cofactor (reducing equivalent) for the enzymes involve in hydroxylation of proline and lysine in collagen
• Lack of proline and lyisne hydroxylation lead to impairmanet of the interchain H_bond formation of a stable 3 helix and affect proper crosslinking
• These greatly decreases the tensile strenght of the assembled fiber: easy bruising, loose teeth and bleeding gums, poor wound healing, poor bone development

Question 13

Chondrodystrophy

Answer 13

Defect in the sulfation of the growing glycosaminoglycan chain.
Affect the proper development and maintenance of the skeletal system. Dwarfism

Question 14

Mucopolysaccharidoses

Answer 14

Progressive disorder characterized by glycosaminoglycans accumulation in the lysosomes of various tissues result oligo in the urine

Question 15

Hurler Syndrme (MPS 1 H)

Answer 15

• most severe form of MPS
• corneal clouding
• Treatment are bone marrow or cord blood transplant and enzyme replacement theraphy available

Question 16

Hunter Syndorme (MPS ll)

Answer 16

• x-linked
• no corneal clouding
• enzyme replacement theray treatment

Question 17

Sly Syndrome (MPS Vll)

Answer 17

• extremely rare form of MPS
• Corneal clouding
• no apporved tratement

Question 18

I-cell disease

Answer 18

Cause: deficiency in the ability to phosphorilate mannose. Accomulation of large lysosomal inclusion bodies is the consequense (LYSOSOMAL STORAGE DISEASE)

Question 19

INSULIN RESISTANCE

Answer 19

the decreased ability of target tissues, such as liver, adipose, and muscle to respond properly to normal (or elevated) concentrations of insulin

Question 20

Insulin resistance alone will not

Answer 20

lead to T2D. It will need dysfunctional pancreatic B-cells (which means that b- cells function can not longer secrete sufficient insulin to compensate for the elevated blood glucose levels)

Question 21

Kwashiorkor

Answer 21

Protein deprivation is relative greater than the reduction in total calories

Question 22

Marasmus

Answer 22

Calorie deprivation is relatively greater than the reduction in protein

Question 23

Fat soluble vitamins

Answer 23

A, D, K, E

Question 24

Vitamin K

Answer 24

• only vitamin that funtion as coenzyme