path CLI

Question 1

a single mutant gene leads to many end effects

Answer 1

pleiotropism

Question 2

mutations at several genetic loci may produce the same trait

Answer 2

heterogeneity

Question 3

what is an example of pleiotropism

Answer 3

sickle cell anemia

Question 4

what are some autosomal dominant disorders affecting the nervous system

Answer 4

huntington disease, neurofibromatosis, myotonic dystrophy, tuberous sclerosis

Question 5

what are some autosomal dominant disorders affecting the urinary system

Answer 5

polycystic kidney disease

Question 6

what is an autosomal dominant disorder that affects the GI system

Answer 6

familial polyposis coli

Question 7

what are some autosomal dominant disorders that affect the hematopoietic system

Answer 7

hereditary spherocytosis, von willebrand disesease

Question 8

what are some autosomal dominant disorders that affect the skeletal system

Answer 8

marfan syndrome (some), Ehler-danlos syndrome (some), osteogenesis imperfect, achondroplasia

Question 9

what are some autosomal dominant disorders that affect the metabolic system

Answer 9

familial hypercholesteremia, acute intermittent porphyria

Question 10

what is an X-linked disorder that affects the musculoskeletal system

Answer 10

duchenne muscular dystrophy

Question 11

what is an X-linked disorder that affects the blood

Answer 11

hemophilia A and B, chronic granulomatous disease, glucose-6-phsphate dehydrogenase deficiency

Question 12

what is an X-linked disorder that affects the immune system

Answer 12

agammaglobulinemia, wiskott-aldrich syndrome

Question 13

what is an X-linked disorder that affects the metabolic system

Answer 13

diabetes insipidus, lesch-nyhan syndrome

Question 14

what is a disorder of connective tissues, manifested primarily by changes in skeleton, eyes, and cardiovascular system

Answer 14

marfan syndrome

Question 15

what is defective in marfan syndrome

Answer 15

fibrillin-1

Question 16

what EDS type is autosomal dominant and has skin and joint hyper mobility, atrophic scars, easy bruising

Answer 16

class (I/II)

Question 17

what EDS type is autosomal dominant and has joint hyper mobility, pain dislocations

Answer 17

hyper mobility (III)

Question 18

what EDS type is autosomal dominant and has thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility

Answer 18

vascular (IV)

Question 19

what EDS type is autosomal recessive and has hypotonia, joint laxity, congenital scoliosis, ocular fragility

Answer 19

kyphoscolliosis (V)

Question 20

what EDS type is autosomal dominant and has severe joint hyper mobility, skin changes (mild), scoliosis, bruising

Answer 20

arthrochalasia (VIIa,b)

Question 21

what EDS type is autosomal recessive and has severe skin fragility, cutis laxa, bruising

Answer 21

dermatosparaxis (VIIc)

Question 22

what is a receptor disease that is consequence of a mutation in the gene encoding the receptor for LDL, which is involved in the transport and metabolism of cholesterol

Answer 22

familial hypercholesterolemia

Question 23

what are GM2 gangliosidoses

Answer 23

group of 3 lysosomal storage diseases caused by an inability to catabolize GM2 gangliosides

Question 24

what are disorders that are characterized by lysosomal accumulation of sphingomyelin due to an inherited deficiency of sphingomyelinase

Answer 24

niemann-pick diseases type A and B

Question 25

what are a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase

Answer 25

gaucher disease

Question 26

what are group of closely related syndromes that result from genetically determined deficiencies of enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans)

Answer 26

mucopolysaccharidoses (MPS)

Question 27

what is caused by an inability to metabolize GM2 gangliosides due to lack of the alpha subunit of lysosomal hexosaminidase

Answer 27

tay-sachs disease