Unit 4 Exam Flashcards

1
Q

The technique called fluorescence in situ hybridization (FISH) uses _____.

A

DNA probes with attached fluorescent molecules that indicate specific DNA sequences

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2
Q

Which of these has never been observed in a viable human birth?

A

YO male

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3
Q

Chorionic villus sampling differs from amniocentesis in that for CVS _____.

A

A karyotype is prepared directly from collected cells

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4
Q

People with Klinefelter syndrome have _____ chromosome constitution.

A

XXY

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5
Q

_____ are illustrations that show chromosome arm and major regions.

A

Ideograms

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6
Q

Chromosomes in karyotypes are arranged and ordered by _____.

A

Length

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7
Q

The area of genetics that links traits, including illnesses, to chromosome variations is _____.

A

Cytogenetics

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8
Q

Only nine types of aneuploids are known in newborns because ______.

A

Most types of aneuploids are lethal early in development

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9
Q

The satellite regions that distinguish chromosomes 13, 14, 15, 21, and 22 are _____.

A

Repeated genes that encode ribosomal RNAs and proteins

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10
Q

The meiotic error that results in aneuploid cells is _____.

A

Nondisjunction

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11
Q

Most males born with an extra Y chromosome _____.

A

Are tall but are otherwise normal

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12
Q

Chorionic villus sampling reveals a fetus has the karyotype 47, XYY. What is the diagnosis?

A

Jacobs syndrome

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13
Q

A man with trisomy 21 could pass Down syndrome to offspring if he _____.

A

Produces sperm that have two copies of chromosome 21

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14
Q

A karyotype with an extra set of chromosomes indicates _____.

A

Polyploidy

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15
Q

A person with the chromosomal shorthand 47, XY, +18 has what type of chromosomal abnormality?

A

Trisomy

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16
Q

Cells that have an extra 21st chromosome are _____.

A

Trisomic

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17
Q

_____ syndrome can only result from non-disjunction in the male and female.

A

XXYY

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18
Q

Chorionic villus sampling reveals that a fetus has the karyotype 45, X. What is the diagnosis?

A

Turner syndrome

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19
Q

A cell that has three copies of every chromosome is _____.

A

Triploid

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20
Q

A chromosome with two arms of about equal length is called _____.

A

Metacentric

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21
Q

The cause of p53-related cancers is _____.

A

Failure to repair damaged DNA, allowing the cell to continue dividing

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22
Q

The probability of cancer development in the general population is one in _____ people.

A

Three

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23
Q

When tumor cell DNA is examined from people at different stages of the same cancer type, mutations that are common to all of them _____.

A

Act early in the disease

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24
Q

Genes that normally prevent cell division are _____.

A

Tumor suppressors

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25
Q

One of the challenges associated with eradicating cancer is its _____.

A

Heterogeneity

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26
Q

The term used to describe the fact that cancer cells have lost the specializations of the cells from which they descend is ______.

A

Dedifferentiated

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27
Q

All cancers reflect, at the most general level, a defect in ______.

A

The cell cycle

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28
Q

A _____ mutation does not cause or propel a cancer’s growth and spread.

A

Passenger

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29
Q

Mitosis in a cancer cell can be compared to a runaway train that is racing along without signals and control points.

A

True

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30
Q

Cancer cells are not ______.

A

Contact inhibited

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31
Q

A(n) _____ is a type of cancer-causing gene that promotes cancer by activating cell division at an inappropriate time or place.

A

Oncogene

32
Q

BRCA1 and BRCA2 mutations are _____.

A

Incompletely penetrant

33
Q

Loss of tumor suppression in a cell usually results from _____.

A

A deletion of a tumor suppressor gene

34
Q

In addition to activated oncogenes and inactivated tumor suppressor genes, epigenetic changes in gene expression are seen in cancer.

A

True

35
Q

Cancer does not typically follow a Mendelian pattern of inheritance because it is usually caused by _____.

A

Specific combinations of alleles and an environmental factor

36
Q

A cancer cell is injected into a healthy mouse. The mouse develops tumors. This experiment indicates that cancer is _____.

A

Transplantable

37
Q

Sporadic cancers result from _____.

A

Recessive or dominant mutation in a somatic cell

38
Q

Research has shown that a “cocktail” of several drugs, each acting on a different cellular pathway, is the best approach to treat many cancers.

A

True

39
Q

A cancer stem cell can divide to give rise to _____.

A

Tumor cells, abnormal daughter cells, normal cells, and more cancer stem cells

40
Q

Dana Reeve, the wife of actor Christopher Reeve, died at a young age from lung cancer, although she had never smoked. Her cancer was likely caused by ______.

A

A gremlin mutation

41
Q

A naturally occurring, small, circle of DNA used as a vector to transmit DNA is a _____.

A

Plasmid

42
Q

Restriction enzymes are useful in creating recombinant DNA molecules because they _____.

A

Generate “sticky ends” by cutting at the same sequence in any DNA source

43
Q

Proteins isolated from bacteria and used in recombinant DNA technology to cut DNA at specific sequences are _____.

A

Restriction enzymes

44
Q

A DNA sequence can be patented if _____.

A

It is useful as a tool for research or as a novel or improved product

45
Q

One of the science-related concerns associated with the use of genetically modified (GM) foods is that _____.

A

Overreliance on GM crops may lead to genetic uniformity

46
Q

Select the DNA sequence that is palindromic in the way that restriction enzyme recognition sites are palindromic.

A

5’-CCCGGG-3’

47
Q

The first drug produced using recombinant DNA technology was _____.

A

Insulin

48
Q

One of the first applications of pharmacogenetics in prescribing drugs is for _____.

A

Warfarin, a blood thinner

49
Q

The field of genetic counseling began when the term was coined _____.

A

In 1947, to help physicians explain inherited diseases to their patients

50
Q

Tyrone has Gaucher disease. He receives recombinant glucocerebrosidase every other week in an infusion to prevent the symptoms. This treatment is an example of _____.

A

Enzyme replacement therapy

51
Q

Maxwell needs to take an anti-depressant drug. He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs. This approach to selecting a therapeutic drug is called _____.

A

Pharmacogenomics

52
Q

A nasal spray for cystic fibrosis patients, which contains adenovirus particles carrying a normal human CFTR gene, is an example of _____.

A

In vivo gene therapy

53
Q

Rita has been diagnosed with HER2 breast cancer, and is prescribed Herceptin. The approach of basing a drug prescription on the results of a single-gene test is called _____.

A

Pharmacogenetics

54
Q

Sheree is referred to a genetic counselor because a cystic fibrosis (CF) test done as a routine part of her prenatal care indicated that she is a carrier of the most common mutant allele. Sheree is stunned, because no one in her family has the disease. She is 26 years old. The genetic counselor would most likely _____.

A

Explain autosomal recessive inheritance and suggest that Sheree’s husband be tested for the CF allele

55
Q

A genetic counselor might discuss assisted reproductive technologies with a couple who wish to _____.

A

Avoid passing on a disease-causing allele to a child

56
Q

Which of the following is a vector used to deliver genes in human gene therapy?

A

Adeno-associated virus

57
Q

Newborn screening reveals that newborn Jessica has inherited phenylketonuria (PKU). Her parents are distraught at the diagnosis, but a nutritionist explains that Jessica can be treated, right away. The treatment for PKU is _____.

A

Dietary

58
Q

Pharmacological chaperone therapy _____.

A

Restores proper folding to a misfolded protein

59
Q

Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting _____.

A

An unusual metabolite or metabolic imbalance

60
Q

A normal sperm count is _____ sperm per ejaculate.

A

15 to 200 million

61
Q

A woman who has a baby following embryo donation is her child’s _____.

A

Gestational mother only

62
Q

Procedures that replace the source of a male or female gamete, aid fertilization, or provide a uterus are called _____.

A

Assisted reproductive technologies

63
Q

The fertility drug clomiphene causes a woman to _____.

A

Ovulate more than one oocyte a month

64
Q

A surrogate mother can help couples have a child when the woman does not have a functional _____.

A

Uterus

65
Q

An ectopic pregnancy results when _____.

A

A fertilized ovum begins to develop in a blocked uterine tube

66
Q

Zach undergoes a sperm analysis and is upset to learn that he has oligospermia. This means that _____.

A

He makes too few sperm, lowering the probability of one sperm successfully reaching and fertilizing an oocyte

67
Q

A procedure that places an oocyte and sperm in a culture dish, allows a few cell divisions, and then places the resulting very early embryo in the oocyte donor’s uterus is _____.

A

IVF

68
Q

Excess tissue growing in the uterine lining is called ______.

A

Endometriosis

69
Q

Preimplantation genetic diagnosis (PGD) screens _____ for genetic disorders.

A

Early embryos

70
Q

_____ places sperm into a woman’s reproductive tract to fertilize an oocyte.

A

Intrauterine insemination

71
Q

For a healthy woman under age 30 with regular menstrual periods and having sex regularly but not using birth control, pregnancy typically occurs _____.

A

In three or four months

72
Q

Savior siblings born using ARTs have provided needed transplants for ailing siblings.

A

True

73
Q

Irregular ovulation may result from a hormonal imbalance that is caused by _____.

A

A tumor in the ovary or pituitary

74
Q

What is a major benefit of CRISRPR-Cas9 over older gene therapy tools?

A

It delivers a gene to a specific part of the genome

75
Q

A woman is seen in the doctor’s office for an unusual digestive condition. When her doctor asks more questions, he finds out that many of her relatives have the same unusual symptoms. The family undergoes exome sequencing, and a novel gene mutation is identified in common to all affected family members. What is the next step that should occur?

A

An animal model of the disease should be created using CRISPR-Cas9 genome editing to determine if the mutation indeed causes the symptoms in question