Bms Midterm

Question 1

Familial hypercholesterolemia is caused by

Answer 1

Mutations in LDL receptor and Pcsk9 gene

Question 2

According to x linked genes, males are

Answer 2

Hemizygotes

Question 3

What bacteria can cause neonatal meningitis

Answer 3

Listeria monocytogenes

Question 4

What is a characteristic sigh of cystic fibrosis

Answer 4

High level of salt in sweat

Question 5

Runners load up on glycogen, alpha amylase breaks down starch into

Answer 5

Limit dextrins

Question 6

75 year old smoker

Answer 6

Haemophilus influenzae

Question 7

Hepatic steatosis occurs in conditions in which there is

Answer 7

A defect in MTP activity

Question 8

primary function of alpha 1 antitrypsin

Answer 8

Bind and inhibit elastase

Question 9

Bartonella is known as

Answer 9

Cat scratch disease

Question 10

Dmd, duchenne muscular dystrophy is x linked, it is

Answer 10

Sex linked recessive

Question 11

What organs does cf primarily effect

Answer 11

Lungs and pancreas

Question 12

Honey crust lesions, what test is needed

Answer 12

Catalase test

Question 13

What allows bacteria to attach to mucosal membranes

Answer 13

Pilus

Question 14

Superantigen of staphylococcus aureus causes

Answer 14

Toxic shock syndrome

Question 15

What causes anemia in sickle cell disease

Answer 15

Abnormal haemoglobin which polymerises and irreversibly injures the red blood cell

Question 16

What autosomal recessive disorder causes pale foul smelling stools, pneumonia and salty skin

Answer 16

Cystic fibrosis

Question 17

What structure is in gram neg but not gram positive

Answer 17

Outer membrane

Question 18

Difference between corynebacteria diphtheria and nonpathogenic normal flora diphtheria is

Answer 18

A diphthamide on eef2

Question 19

Large gram positive rod are also spore forming

Answer 19

Bacillus

Question 20

Patients with deficiency of LPL or apo C-ii show a large accumulation of

Answer 20

VLDL in plasma

Question 21

What causes oily stools in babies

Answer 21

Pancreatic lipase enzyme deficiency

Question 22

What club shaped gram positive rod causes disease by producing an exotoxin that kills cells by inhibiting elongation factor 2 leading to protein synthesis inhibition

Answer 22

Corynebacterium diphtheriae

Question 23

Most accurate about transposons

Answer 23

Encode enzymes that degrade ends of bacterial chromosome

Question 24

What change in the polypeptide chain is a characteristic of Hbs

Answer 24

Glu6val

Question 25

what enzyme deficiency causes homocystinuria 

Answer 25

cystathionine beta-synthase

Question 26

What is not a characteristic of cystic fibrosis

Answer 26

Progressive neurodegeneration and muscle atrophy

Question 27

What disease is caused by lack of triglyceride transfer 

Answer 27

Abetalipoproteinemia

Question 28

What ion is measured for cystic fibrosis diagnosis

Answer 28

Chloride ions in sweat test

Question 29

Microsomal triglyceride transfer protein is responsible for

Answer 29

Assembly of chylomicrons in endoplasmic reticulum of intestinal epithelial cells

Question 30

After specialised transduction, if bacterial genes transferred are to be stabilised, what process must occur

Answer 30

Homologous recombination

Question 31

Familial hypercholesterolemia is

Answer 31

Pure dominant inheritance

Question 32

Which apo protein activates LPL

Answer 32

Apo C II

Question 33

What do bile salts inhibit

Answer 33

Pancreatic lipase

Question 34

Which disease affects enzyme that removes sugar side chains from long chain lipids

Answer 34

Tay sachs

Question 35

Patients that are homozygotic for apo e2 are deficient in

Answer 35

Clearance of chylomicron remnants and LDL These individuals have familial type 3hyperlipoproteinemia

Question 36

Dominant Huntington gene for one parents what’s the probability their child will have it

Answer 36

0.5

Question 37

True statement about a chains

Answer 37

Clustered randomly on chromosome 16

Question 38

What allows bacteria to adhere to medical devices

Answer 38

Glycocalyx

Question 39

BMD is characterised by later onset and slower progression

Question 40

What bacterial component exhibits most antigenic variation

Answer 40

Lipid a

Question 41

Function of pcsk9

Answer 41

controls the number of low-density lipoprotein receptors PCSK9 is a protease that degrades the LDLR, thereby regulating its expression

Question 42

homocystinuria is caused by

Answer 42

reduced activity of an enzyme cystathionine beta-synthase