Pathpharm 2 week 2

Question 1

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

Answer 1

The principle of dominance.

Question 2

The______________ gene’s characteristics are observable

Answer 2

“dominant”

Question 3

The concealed gene is called_________

Answer 3

“recessive”

Question 4

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

Answer 4

“recessive”

Question 5

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

Answer 5

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

Question 6

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

Answer 6

injurious genetic factors

Question 7

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

Answer 7

Chromosomal disorders

Question 8

Aneuploidy is a common chromosomal disorder resulting from:

Answer 8

an extra chromosome or a missing chromosome

Question 9

Structural abnormalities involve:

Answer 9

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

Question 10

What are two examples of chromosomal disorders?

Answer 10

Down’s syndrome, Cri du Chat

Question 11

Trisomy 21 will cause which disease?

Answer 11

Down’s Syndrome

Question 12

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

Answer 12

Mosaic Down’s syndrome

Question 13

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

Answer 13

Translocation Down’s Syndrome

Question 14

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

Answer 14

TRUE

Question 15

___________ results when a piece of chromosome 5 is missing.

Answer 15

Cri-du-chat

Question 16

Infants with Cri-du-chat often have:

Answer 16

a high-pitched cry that sounds like a cat

Question 17

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

Answer 17

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

Question 18

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

Answer 18

Autosomal dominant disorders

Question 19

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

Answer 19

50.00%

Question 20

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

Answer 20

TRUE

Question 21

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

Answer 21

autosomal dominant disorders

Question 22

What are two examples of Autosomal Dominant Disorders?

Answer 22

Huntington’s disease, Neurofibromatosis

Question 23

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

Answer 23

Huntington’s disease

Question 24

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

Answer 24

autosomal recessive disorders

Question 25

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

Answer 25

Heterozygotes

Question 26

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

Answer 26

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.

Question 27

Sickle Cell anemia, Cystic Fibrosis are both examples of:

Answer 27

Autosomal Recessive Disorders

Question 28

Cystic firbrosis results from:

Answer 28

abnormal sodium transport leading to airway and pancreatic duct obstruction

Question 29

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

Answer 29

FALSE. BOTH parents must donate the defective gene

Question 30

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

Answer 30

X linked Recessive Disorder

Question 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.

Answer 31

X linked Recessive Disorder

Question 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.

Answer 32

TRUE

Question 33

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

Answer 33

50% ;50%

Question 34

What is gene therapy?

Answer 34

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

Question 35

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

Answer 35

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

Question 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:

Answer 36

gene therapy

Question 37

What are genes?

Answer 37

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

Question 38

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

Answer 38

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

Question 39

In most gene therapy studies what occurs?

Answer 39

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

Question 40

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

Answer 40

vector

Question 41

What is the most common vector in gene therapy today?

Answer 41

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

Question 42

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

Answer 42

TRUE

Question 43

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

Answer 43

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

Question 44

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

Answer 44

stem cells

Question 45

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

Answer 45

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

Question 46

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

Answer 46

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

Question 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).

Answer 47

Down syndrome

Question 48

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

Answer 48

cri-du-chat

Question 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.

Answer 49

Cri-du-chat

Question 50

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

Answer 50

FALSE. It is a random event.

Question 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.

Answer 51

Huntington’s syndrome

Question 52

Mutations in the______ gene cause Huntington disease.

Answer 52

HD

Question 53

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

Answer 53

cystic fibrosis

Question 54

Mutations in the CFTR gene cause_________

Answer 54

cystic fibrosis

Question 55

Hemophilia is a___________ disorder

Answer 55

x-linked recessive

Question 56

____________is a disorder that affects coagulation

Answer 56

Hemophilia

Question 57

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

Answer 57

hemophilia B Leyden

Question 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.

Answer 58

Turner syndrome

Question 59

Physical features of Turner’s syndrome include:

Answer 59

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

Question 60

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

Answer 60

Klinefelter syndrome

Question 61

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

Answer 61

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).

Question 62

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

Answer 62

Neurofibromatosis

Question 63

What are the three types of Neurofibromatosis?

Answer 63

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

Question 64

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

Answer 64

Type 1

Question 65

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

Answer 65

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

Question 66

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

Answer 66

intense pain; rarest

Question 67

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

Answer 67

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

Question 68

What is gene mapping?

Answer 68

mapping genes to a specific location on a chromosome.

Question 69

Why is gene mapping helpful for researchers?

Answer 69

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

Question 70

Define Oncogenes:

Answer 70

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

Question 71

What is the purpose of Tumor suppressor genes?

Answer 71

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

Question 72

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

Answer 72

Tumor suppressor gene

Question 73

What is a Proto-oncogene?

Answer 73

A normal, nonmutant gene that codes for cellular growth

Question 74

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

Answer 74

radiation

Question 75

Some cons of radiation are:

Answer 75

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.

Question 76

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

Answer 76

surgery

Question 77

What are some cons of surgery as a cancer treatment?

Answer 77

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

Question 78

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

Answer 78

chemotherapy

Question 79

What are some cons to chemotherapy?

Answer 79

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.