Genetics

Question 0

What diseases are autosomal dominant?

Answer 0

Familial hypercholesterolemia
Huntington disease
Myotonic dystrophy
Neurofibromatosis
Osteogenesis imperfecta
Marfan syndrome

Question 1

What kind of proteins are involved w/ autosomal dominate diseases?

Answer 1

non-catalytic proteins

Question 2

what kind of proteins are often involved w/ autosomal recessive diseases?

Answer 2

catalytic proteins

Question 3

what are the autosomal recessive diseases?

Answer 3

sickle cell anemia
cystic fibrosis
PKU
Tay-sachs

Question 4

what are examples of x-linked diseases?

Answer 4

Duchenne (DMD) and Becker (BMD) muscular dystrophy
lesch-Nyhan Syndrome
Glucose-6-phosphate dehydrogenase deficiency
Hemophilia A and B

Question 5

what is the inheritance pattern of mitochondrial diseases?

Answer 5

100% if mother is affected and 0% if the dad is affected

Question 6

what are the common types of diseases that are involved with mitochondrial inheritance?

Answer 6

neuropathies, myopathies, and cardiomyopathies

Question 7

what are the 2 types of loss of function mutations?

Answer 7

defects in structural proteins and defects in regulatory proteins

Question 8

what do gain of function mutations do?

Answer 8

endow normal proteins w/ toxic properties

Question 9

what is variable expression?

Answer 9

some individuals w/in a family with the same disease express it differently from major to mild

Question 10

what is pleiotropy?

Answer 10

when a single mutation affects multiple organ systems

Question 11

what are the clinical symptoms of NF Type 1?

Answer 11

Cafe-au-lait spots
Multiple neurofibromas
Axillary freckling
Lisch nodules

Question 12

what causes Marfan syndrome?

Answer 12

a mutation in the fibrillin gene

Question 13

what causes NF Type 1?

Answer 13

mutation in the regulatory protein involved in controlling the cell cycle

Question 14

what are the clinical symptoms of Marfan syndrome?

Answer 14

skeletal abnormalities
thin, long fingers and limbs
hypermobile joints
ocular abnormalities 
cardiovascular disease

Question 15

what chromosome are the genes for alpha-chain synthesis found on?

Answer 15

16

Question 16

what chromosome are the genes for beta chain synthesis found on ?

Answer 16

11

Question 17

what type of hemoglobin is in fetal hemoglobin?

Answer 17

gamma + alpha

Question 18

what gene is affected in both Duchenne and Becker muscular dystrophy?

Answer 18

dystrophin gene

Question 19

what is the mutation type for duchenne muscular dystrophy?

Answer 19

insertion or deletion that causes frameshift

Question 20

what is the mutation type for becker muscular dystrophy?

Answer 20

insertion or deletions that are a factor of 3

Question 21

what is the gene defect for hemophilia A?

Answer 21

gene defect in blood clotting factor 8

Question 22

what is the gene defect in hemophilia B

Answer 22

gene defect in blood clotting factor 9

Question 23

what is the gene defect in fragile X syndrome?

Answer 23

trinucleotide repeat expansion in the 5’ NCR

Question 24

what is HbBart?

Answer 24

4 gamma globulins found in pts w/ alpha-thalassemia (have little to no alpha chains) less toxic

Question 25

What is HbH?

Answer 25

4 beta chains found in people w/ alpha-thalassemia less toxic

Question 26

what is anticipation?

Answer 26

diseases where the onset in a family is earlier in younger generations w/ more severe symptoms often seen in disease of trinucleotide repeat expansions

Question 27

what is methemoglobin?

Answer 27

hemoglobin that has been oxidized and looses its affinity for oxygen so it stays in the deoxygenated state

Question 28

what causes acquired methemoglobinemia?

Answer 28

oxidative stress | nitrates in infants

Question 29

what causes congenital methemoglobinemia?

Answer 29

deficiency in NADH methemoglobin reductase KY blue ppl treated w/ methylene blue

Question 30

what is von Hippel-Lindau syndrome?

Answer 30

mutation in tumor suppressor gene that can cause tumors to develop on adrenal gland can lead to an excessive production of adrenaline

Question 31

what causes lynch syndrome?

Answer 31

defect in mismatch repair genes

Question 32

what is the genotype for Klinefelter syndrome and the sex orientation?

Answer 32

47, XXY male sterile w/ some female characteristics

Question 33

what is the genotype for Turner syndrome and the sex orientation?

Answer 33

45, X female webbed neck, widely spaced nipples

Question 34

what is genotype for Jacob's syndrome?

Answer 34

47, XYY | very tall

Question 35

what is a genotype for women that can produce psychiatric problems?

Answer 35

47, XXX

Question 36

what is the most common vector used in human gene therapy?

Answer 36

viruses w/ pathogenic genes removed

Question 37

what is gene augmentation therapy?

Answer 37

inserting an extra copy of a normal gene into a cell

Question 38

what is targeted killing of specific cells?

Answer 38

a type of gene therapy where the transgene that is inserted into the cell is toxic to the cell

Question 39

what is targeted inhibition of gene expression?

Answer 39

the insertion interferes w/ expression of a disease gene at the level of DNA, RNA or protein

Question 40

what is targeted gene mutation therapy?

Answer 40

DNA or RNA of the mutated gene sequence is targeted w/ the insertion only type that would ever be allowed at the germline level

Question 41

what is severe combined immunodeficiency disease (SCID)?

Answer 41

deficiency in adenosine deaminase (important for lymphocytes)