genetics CLIs

Question 1

what is an example of a helix-turn-helix mutation and the disorder caused

Answer 1

HOX genes and causes synpolydactyly and hand-foot-genital syndrome

Question 2

what is an example of an helix-loop-helix mutation and the disorder caused

Answer 2

mutation in TWIST cause saethre-chotzen syndrome (acrocephalosyndactyly type 3)

Question 3

what are examples of zinc finger mutations and what disorders are caused

Answer 3

BRCA1, WT1, GL13, vitamin D receptor gene (causes rickets)

Question 4

what are some genes that are mutated with leucine zipper

Answer 4

RB1 and Jun and FOS oncogenes

Question 5

what are some mutations with beta sheets and what disorders are caused

Answer 5

TBX family genes; TBX5 leads to holt-roam syndrome and TBX3 leads to ulnar-mammary syndrome

Question 6

what are the stop codons

Answer 6

UAA, UGA, UAG

Question 7

what type of osteogenesis imperfecta has mild bone fragility, blue sclera, few bone deformities, dentinogenesis imperfect in some cases

Answer 7

1

Question 8

what type of osteogenesis imperfect is the most severe form with extreme bone fragility, long bone deformities, compressed femurs

Answer 8

2

Question 9

what type of osteogenesis imperfect has severe bone fragility, very short stature, variably blue sclera, progressive bone deformities, dentinogenesis imperfect is common

Answer 9

3

Question 10

what type of osteogenesis imperfect has short stature, normal sclera, mild to moderate bone deformity, hearing loss in some, dentinogenesis imperfect is common

Answer 10

4

Question 11

what type of osteogenesis imperfect has white sclera, early lower limb deformities, congenital fractures, osteopenia

Answer 11

7

Question 12

what positions in genetic code indicate leucine

Answer 12

UUA, UUG, CUU, CUC, CUA,

Question 13

what positions in genetic code indicate Phe

Answer 13

UUU, UUC

Question 14

what positions in genetic code indicate Ile

Answer 14

AUU, AUC, AUA

Question 15

what position in genetic code indicate Met

Answer 15

AUG

Question 16

what is the main characteristic of CF

Answer 16

pancreatic insufficiency (85%)

Question 17

what is the major cause of mortality and morbidity with CF

Answer 17

pulmonary disease

Question 18

what does CFTR do

Answer 18

encodes cAMP-regulated chloride ion channels that span the membranes of specialized epithelial cells

Question 19

what is autosomal recessive inheritance characterized by

Answer 19

clustering of the disease phenotype among siblings, but the disease is not usually seen among parents or other ancestors. equal numbers of affected males and females are usually seen, and consanguinity may be present

Question 20

what are autosomal dominant inheritance characterized by

Answer 20

vertical transmission of the disease phenotype, a lack of skipped generations, and a roughly equal number of affected males and females. father-to-son transmission may be observed

Question 21

where is the mutation with huntington disease

Answer 21

CAG expanded repeat located in exon one

Question 22

what type of disorder is NF1

Answer 22

autosomal dominant

Question 23

describe retinitis pigmentosa

Answer 23

pregessive retinopathy and loss of vision

Question 24

what is the brittle bone disease

Answer 24

osteogenesis imperfecta

Question 25

what is the disease characterized by peripheral dementia

Answer 25

familial alzheimer disease

Question 26

what disease is described by peripheral neuropatthy

Answer 26

charcot-marie-tooth disease

Question 27

what disease is characterized be predisposition to early onset breast and ovarian cancer

Answer 27

autosomal dominant breast cancer

Question 28

what disease is characterized by seizures, facial angiofibromas, hypo pigmented macule, mental retardation, multiple hamartomas

Answer 28

tuberous sclerosis