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Biochem block 2 > Genetics > Flashcards

Genetics Flashcards

0
Q

What diseases are autosomal dominant?

A 
Familial hypercholesterolemia
Huntington disease
Myotonic dystrophy
Neurofibromatosis
Osteogenesis imperfecta
Marfan syndrome
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1
Q

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

A

non-catalytic proteins

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2
Q

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

A

catalytic proteins

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3
Q

what are the autosomal recessive diseases?

A

sickle cell anemia
cystic fibrosis
PKU
Tay-sachs

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4
Q

what are examples of x-linked diseases?

A

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

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5
Q

what is the inheritance pattern of mitochondrial diseases?

A

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

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6
Q

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

A

neuropathies, myopathies, and cardiomyopathies

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7
Q

what are the 2 types of loss of function mutations?

A

defects in structural proteins and defects in regulatory proteins

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8
Q

what do gain of function mutations do?

A

endow normal proteins w/ toxic properties

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9
Q

what is variable expression?

A

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

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10
Q

what is pleiotropy?

A

when a single mutation affects multiple organ systems

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11
Q

what are the clinical symptoms of NF Type 1?

A

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

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12
Q

what causes Marfan syndrome?

A

a mutation in the fibrillin gene

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13
Q

what causes NF Type 1?

A

mutation in the regulatory protein involved in controlling the cell cycle

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14
Q

what are the clinical symptoms of Marfan syndrome?

A 
skeletal abnormalities
thin, long fingers and limbs
hypermobile joints
ocular abnormalities 
cardiovascular disease
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15
Q

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

A

16

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16
Q

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

A

11

17
Q

what type of hemoglobin is in fetal hemoglobin?

A

gamma + alpha

18
Q

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

A

dystrophin gene

19
Q

what is the mutation type for duchenne muscular dystrophy?

A

insertion or deletion that causes frameshift

20
Q

what is the mutation type for becker muscular dystrophy?

A

insertion or deletions that are a factor of 3

21
Q

what is the gene defect for hemophilia A?

A

gene defect in blood clotting factor 8

22
Q

what is the gene defect in hemophilia B

A

gene defect in blood clotting factor 9

23
Q

what is the gene defect in fragile X syndrome?

A

trinucleotide repeat expansion in the 5’ NCR

24
Q

what is HbBart?

A

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

25
Q

What is HbH?

A

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

26
Q

what is anticipation?

A

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

27
Q

what is methemoglobin?

A

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

28
Q

what causes acquired methemoglobinemia?

A

oxidative stress

nitrates in infants

29
Q

what causes congenital methemoglobinemia?

A

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

30
Q

what is von Hippel-Lindau syndrome?

A

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

31
Q

what causes lynch syndrome?

A

defect in mismatch repair genes

32
Q

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

A

47, XXY
male
sterile w/ some female characteristics

33
Q

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

A

45, X
female
webbed neck, widely spaced nipples

34
Q

what is genotype for Jacob’s syndrome?

A

47, XYY

very tall

35
Q

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

A

47, XXX

36
Q

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

A

viruses w/ pathogenic genes removed

37
Q

what is gene augmentation therapy?

A

inserting an extra copy of a normal gene into a cell

38
Q

what is targeted killing of specific cells?

A

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

39
Q

what is targeted inhibition of gene expression?

A

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

40
Q

what is targeted gene mutation therapy?

A

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

41
Q

what is severe combined immunodeficiency disease (SCID)?

A

deficiency in adenosine deaminase (important for lymphocytes)

Biochem block 2 (4 decks)

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