Disorders

Question 1

Cystic Fibrosis

Answer 1

Autosomal recessive
- deffective / absent Cl- transport channels in plasma membranes

Question 2

Sickle-Cell

Answer 2

Autosomal recessive
- substitution of single amino acid (Glucose –> Vall) in haemoglobin protein in red blood cells

Question 3

a / ß Thalassemia

Answer 3

Autosomal Recessive
- mutation (some types due to abnormal splicing in ß chain)in haemoglobin gene (a/ß chain) –> low O2 transport

Question 4

Albinism

Answer 4

Autosomal Recessive
- lack of pigmentation in skin / hair
- absence / defect of Tyrosinase (responsible for production of melanin)

Question 5

Phenyketonuria

Answer 5

Autosomal Recessive
- inability to metabolize phenylalanine amino acid –> accumulation in blood & urine & mental retardation

Question 6

Huntington’s

Answer 6

Autosomal Dominant
- deterioration / degeneration of NS (late onset)

Question 7

Achrondoplasia

Answer 7

Autosomal Dominant
- a form of dwarfism

Question 8

Haemophilia

Answer 8

X linked Recessive
- progressive bleeding prolonged in affected individual following an injury due to clotting factor VII defficiency

Question 9

Colour Blindness

Answer 9

X Linked Recessive

Question 10

Duchenne Muscular Dystrophy

Answer 10

X Linked Recessive
- progressive weakening of muscles & coordination

Question 11

Vitamin D Resistent Rickets

Answer 11

X Linked Dominant

Question 12

Alport Syndrome

Answer 12

X Linked Dominant

Question 13

Swyer Syndrome

Answer 13

Y Linked
- AKA: XY Gonadal Dysgenesis
- mutation in SRY gene (=inactivation) gives rise to XY females w/ gonadal dysgenesis –> ind. that are normally make will have female characteristics
* SRY gene = essential for “maleness”

Question 14

XX male Syndrome

Answer 14

Y Linked
- translocation of part of Y chromosome containing SRY gene to X chromosome –> females w/ male characteristics

Question 15

Mitochondrial Myopathy

Answer 15

Mitochondrial
- causes prominent muscular problems

Question 16

Leber’s Optic Neuropathy

Answer 16

Mitochondrial
- progressive visual loss

Question 17

Down syndrome

Answer 17

Trisomy 21

Question 18

Edwards Syndrome

Answer 18

Trisomy 18

Question 19

Patau Syndrome

Answer 19

Trisomy 13

Question 20

Klinefelter

Answer 20

XXY males w/ extra X chromosome

Question 21

Turner

Answer 21

Monosomy X, XO
females = sterile

Question 22

Cri du Chat

Answer 22

5p-

Question 23

Chronic Myelogenous Leukemia

Answer 23

Chromosomes 9 & 22 reciprocally translocated

Question 24

Beckwith - Wiedemann Syndrome (BWS)

Answer 24

abnormal activation fo maternal IFG2 allele during gamete formation

Question 25

Xeroderma Pigmentosum

Answer 25

Autosomal Recessive
- Bulky DNA adducts
- mutation in genes encoding for NER repair enzymes responsible for repairing UV light induced DNA damage
- highly susceptible to skin cancer (melanoma)
* UV light –> thymine dimers (T-T)