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Flashcards in Pathpharm 2 week 2 Deck (79):
1

One gene may “mask” another gene when the 2 are found together on a heterozygote. This refers to:

The principle of dominance.

2

The______________ gene’s characteristics are observable

“dominant”

3

The concealed gene is called_________

“recessive”

4

Genes for a ____________ disease occur in heterozygotes who carry 1 copy of the gene, but do not express the disease

“recessive”

5

What are some Injurois Genetic Factors that can lead to disease?

Nuclear alterations, Alterations in the plasma membrane structure, shape, receptors, or transport mechanisms

6

Sickle cell anemia and muscular dystrophy are examples of diseases caused by:

injurious genetic factors

7

_________________ result from a deficiency, excess, or structural abnormality in a chromosome.

Chromosomal disorders

8

Aneuploidy is a common chromosomal disorder resulting from:

an extra chromosome or a missing chromosome

9

Structural abnormalities involve:

loss (deletion) or excess (duplication) of part of a chromosome

10

What are two examples of chromosomal disorders?

Down’s syndrome, Cri du Chat

11

Trisomy 21 will cause which disease?

Down's Syndrome

12

______________ occurs when some cells have 3 copies of chromosome 21, but others do not.

Mosaic Down's syndrome

13

____________ occurs when nearly all or part of a chromosome 21 becomes attached to another chromosome in the cell

Translocation Down's Syndrome

14

T or F: Translocation Down's syndrome is inheritable.

TRUE

15

___________ results when a piece of chromosome 5 is missing.

Cri-du-chat

16

Infants with Cri-du-chat often have:

a high-pitched cry that sounds like a cat

17

T or F: No matter what the size of the deletion on chromosome 5 the effects on the person will be the same.

FALSE. Studies suggest the larger the deletion the more severe retardation will occur.

18

____________________________ disorders occur when a mutation is present in one copy of a gene carried on an autosome.

Autosomal dominant disorders

19

Children of a person with an autosomal dominant disorder have a __________ chance of inheriting the mutation

50.00%

20

T or F: In respect to autosomal dominant disorders- Males and females are equally likely to inherit the mutation and to be affected

TRUE

21

In this type of disorder Family history typically reveals the disorder in sequential generations

autosomal dominant disorders

22

What are two examples of Autosomal Dominant Disorders?

Huntington’s disease, Neurofibromatosis

23

____________ is a progressive brain disorder that causes uncontrolled movements, mental and emotional problems, and loss of thinking abilit

Huntington's disease

24

________________ occur when two mutations — one in each gene, for a gene on an autosome — are necessary to cause disease.

autosomal recessive disorders

25

______________(such as parents of an affected individual) carry one copy of the mutated gene, are asymptomatic, and are considered carriers.

Heterozygotes

26

If two carriers have children, each child has what odds of inheriting normal or affected genes?

25% chance of inheriting both mutations and having the disease, a 50% chance of one mutation and being an unaffected carrier, and a 25% chance of inheriting both normal alleles.

27

Sickle Cell anemia, Cystic Fibrosis are both examples of:

Autosomal Recessive Disorders

28

Cystic firbrosis results from:

abnormal sodium transport leading to airway and pancreatic duct obstruction

29

T or F: In autosomal recessive defects, only one parent needs to donate a defective gene.

FALSE. BOTH parents must donate the defective gene

30

________________________ are present when a mutation occurs in a gene on the X chromosome

X linked Recessive Disorder

31

In this type of disorder a single mutation is sufficient to cause disease in a male; women with a single mutation are heterozygotes and are considered carriers.

X linked Recessive Disorder

32

T or F: Carriers of X-linked recessive disorders may be asymptomatic or symptomatic, depending on the level of X-chromosome inactivation in relevant tissues.

TRUE

33

Sons of carriers have a________ risk of being affected; daughters of carriers have a _______ risk of being carriers

50% ;50%

34

What is gene therapy?

Gene therapy is a technique for correcting defective genes responsible for disease development.

35

What is the most common method that researchers use in gene therapy?

A normal gene may be inserted into a nonspecific location within the genome to replace a nonfunctional gene.

36

An abnormal gene could be swapped for a normal gene through homologous recombination, The abnormal gene could be repaired through selective reverse mutation, which returns the gene to its normal function, and The regulation (the degree to which a gene is turned on or off) of a particular gene could be altered are all examples of:

gene therapy

37

What are genes?

specific sequences of bases that encode instructions on how to make proteins.

38

T or F: Genes perform most life functions and even make up the majority of cellular structures.

FALSE. PROTIENS perform most life functions and even make up the majority of cellular structures.

39

In most gene therapy studies what occurs?

a "normal" gene is inserted into the genome to replace an "abnormal," disease-causing gene.

40

A carrier molecule called a ________ must be used to deliver the therapeutic gene to the patient's target cells.

vector

41

What is the most common vector in gene therapy today?

a virus that has been genetically altered to carry normal human DNA.

42

T or F: The Herpes simplex virus is used in gene therapy.

TRUE

43

What 4 main factors have kept gene therapy from becoming and effective treatment for genetic disease?

Negative immune responses: Anytime a foreign object is introduced into human tissues the immune system is designed to attack the invader; problems with viral vectors: toxicity, immune and inflammatory responses, gene control and targeting issues, and fear that the viral vector may recover its ability to cause disease; short-lived nature of gene therapy: Patients will have to undergo multiple rounds of gene therapy., and multigene disorders:Multigene or multifactorial disorders would be especially difficult to treat effectively using gene therapy

44

_____________ have the remarkable potential to develop into many different cell types in the body during early life and growth

stem cells

45

Stem cells are distinguished from other cell types by which two important characteristics?

1. unspecialized cells capable of renewing themselves through cell division, 2. under certain physiologic or experimental conditions, they can be induced to become tissue- or organ-specific cells with special functions

46

T or F: In the heart, gut, and bone marrow stem cells regularly divide to repair and replace worn out or damaged tissues.

FALSE. Stem cells regularily divide in the gut and bone marrow, but they only divide in the heart and pancreas under special conditions.

47

______________ is a chromosomal condition that is associated with mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. People with this condition are at an increased risk for heart defects, digestive problems such as gastroesophageal reflux or celiac disease, hearing loss, and cancer of blood-forming tissue (leukemia). Additionally, some people have reduced activity of the thyroid gland (hypothyroidism).

Down syndrome

48

_____________ is also known as "5p-" syndrome because it results from a deletion of the short (p) arm of chromosome 5

cri-du-chat

49

This disorder is characterized by mental retardation and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy.

Cri-du-chat

50

T or F: Cri-du-chat syndrome is inheritable.

FALSE. It is a random event.

51

Early signs and symptoms of this disease can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions.

Huntington's syndrome

52

Mutations in the______ gene cause Huntington disease.

HD

53

this inherited disorder causes progressive damage to the respiratory system and chronic digestive system problems

cystic fibrosis

54

Mutations in the CFTR gene cause_________

cystic fibrosis

55

Hemophilia is a___________ disorder

x-linked recessive

56

____________is a disorder that affects coagulation

Hemophilia

57

People with __________ hemophilia experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty.

hemophilia B Leyden

58

____________ is a genetic disorder caused by a missing or incomplete X chromosome. Girls who have it are short, their ovaries don't work properly, and most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.

Turner syndrome

59

Physical features of Turner's syndrome include:

Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck, Low hairline in the back, Low-set ears, and Swollen hands and feet

60

Males with a chromosomal make-up of 47,XXY is associated with which syndrome?

Klinefelter syndrome

61

Why is the shortage of testosterone that occurs with Klinefelter syndrome an issue?

It can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals may have undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

62

________________ is a genetic disorder that mainly affects how nerve cells form and grow by causing tumors to grow on nerves.

Neurofibromatosis

63

What are the three types of Neurofibromatosis?

Type 1 (NF1), Type 2 (NF2), and Schwannomatosis

64

This type of Neurofibromatosis usually starts in childhood, can be present at birth, and causes skin changes and deformed bones.

Type 1

65

Type 2 (NF2) causes:________________ and symptoms often start_____________

hearing loss, ringing in the ears, and poor balance; in the teen years.

66

Schwannomatosis causes___________, and it is the (most common/rarest) type.

intense pain; rarest

67

T or F: Both boys and girls can exhibit Duchenne muscular dystrophy

FALSE. Because of the way it is inherited only boys will get the disease, but girls will be carriers.

68

What is gene mapping?

mapping genes to a specific location on a chromosome.

69

Why is gene mapping helpful for researchers?

Gene mapping assists researchers in finding the location of a mutation so they can fix it more efficiently.

70

Define Oncogenes:

mutant genes; in their normal non-mutant state direct synthesis of proteins that positively regulate proliferation. Once mutated proliferation becomes unchecked

71

What is the purpose of Tumor suppressor genes?

Encode proteins that in their normal state negatively regulate proliferation (suppress tumor growth)

72

What type of gene is sometimes referred to as an "anti-oncogene"?

Tumor suppressor gene

73

What is a Proto-oncogene?

A normal, nonmutant gene that codes for cellular growth

74

This cancer treatment is used to stop metastasis, used when surgery is not an option (difficult to reach places)

radiation

75

Some cons of radiation are:

side effects include nausea, vomiting, diarrhea, fatigue and skin redness and irritation at the site of the therapy; death of skin tissue (atrophy), skin pain and/or itching and greater vulnerability to infection.

76

This type of cancer treatment is effective in removing single masses; surgeon specifically targets cancer cells

surgery

77

What are some cons of surgery as a cancer treatment?

cons: not effective in treating metastasized cancers; risk for bleeding and infection post-op

78

This type of cancer treatment has the pro: can be administered in an outpatient setting

chemotherapy

79

What are some cons to chemotherapy?

harmful to all cells, not just cancer cells; fatigue, nausea/vomiting, dizzy, hair loss, reduced blood counts, immunosuppression and increased infection risk. Long term effects include infertility and damage to the heart, lungs and kidneys.