Genetics lab Human diseases

Question 1

condition is caused by the HexA gene

Answer 1

Tay Sachs Disease

Question 2

individuals affected by this condition typically are of short stature and have webbed neck

Answer 2

Turner’s syndrome

Question 3

This condition is caused by a mutation in the hemoglobin gene

Answer 3

Sickle cell disease

Question 4

individuals with this condition have an increased risk of developing skin cancer

Answer 4

Xeroderma pigmentosa

Question 5

individuals with this partial deletion of chromosome 5 have a characteristic cry

Answer 5

cri du chat

Question 6

individuals with this condition store excess iron in their tissues

Answer 6

hemochromatosis

Question 7

this condition is characterized by the fishy odor

Answer 7

Trimethylaminuria

Question 8

individuals with this condition have salty sweat

Answer 8

cystic fibrosis

Question 9

the symptoms of this disease result from an error in metabolism cab be mitigated by dietary restrictions

Answer 9

Phenylketonuria

Question 10

while 1/5000 births may be affected, less than 50% survive the first week

Answer 10

trisomy 18

Question 11

this bleeding disorder is a result of x linked mutation

Answer 11

hemophilia

Question 12

this condition results in progressive loss of vision

Answer 12

Retinitis pigmentosa

Question 13

individuals with this condition have an increase risk of blood clots

Answer 13

factor v lieden thrombophilia

Question 14

individuals with this condition are confined to a wheelchair by age 12

Answer 14

Duchenne muscular dystrophy

Question 15

this extremely rare condition is characterized by premature aging

Answer 15

progeria

Question 16

individuals with this condition need to be kept in sterile environment to prevent infection

Answer 16

Severe Combined Immunodeficiency

Question 17

patients diagnosed with this disease may be treated with a gene therapy using the chaperone protein MOG1

Answer 17

Brugada syndrome

Question 18

this autosomal dominant disease results from the expansion of the trinucleotide repeat CAG

Answer 18

Huntington’s disease

Question 19

this defect in collagen production results in brittle bones

Answer 19

osteogenesis

Question 20

individuals with conditions may have a mutation in the MMUT gene

Answer 20

methylmalonic acidemia

Question 21

individuals with this condition may be treated with injections of B12

Question 22

this condition is due to an error in heme production

Answer 22

Porphyria

Question 23

this condition results from over expression of the FGFR3 gene which interferes with the skeletal development aka as dwarfism

Answer 23

achondroplasia