Deck 12: Genetic Diseases and Other Inborn Errors

Question 1

One memorable tragedy occurred in the 1950s at Minamata, Japan where a plastics factory contaminated the bay with high levels of which of the following?

A) Lead
B) Mercury
C) Sulfur
D) Cadmium

Answer 1

B

Question 2

Dor Yeshorim, established in the 1980s by a rabbi who had lost four children, offer Jewish high-school students in the United States, Israel, and other countries blood tests to determine if they are carriers of what disease?

A) Huntington's disease
B) Down syndrome
C) Tay-Sachs disease
D) Marfan syndrome

Answer 2

C

Question 3

Which of the following refers to the study of how genes act in the body and how they interact with environmental influence to cause disease?

A) Genetics
B) Genomics
C) Mycogenetics
D) Cytogenetics

Answer 3

B

Question 4

If a woman takes dietary supplements of folic acid before conception and during early pregnancy, her infant's risk of devastating genetic conditions is substantially reduced.

Question 5

Every cell in a human fetus has 48 chromosomes.

Question 6

Down syndrome is caused by the appearance in cells of an extra copy of chromosome 21.

Question 7

The screening test for cystic fibrosis, which measures an enzyme in the blood, yields many false negatives.

Question 8

Most children born with Tay-Sachs disease die by the age of 4.

Question 9

The most effective intervention currently available for BRCA carriers is the surgical removal of a woman's breasts and ovaries.

Question 10

The Human Genome Project plays a key role in public health since it mapped most of the human genome, allowing a better understanding of the diseases of later life, which usually involve multiple genes.

Question 11

The _______________________ carries the gene for Huntington's disease on one of a pair of chromosomes.

Question 12

If both parents are carriers of a recessive gene for a genetic disease, _____________________ % of their children will have the disease.

Question 13

Dr. Robert Guthrie, a pediatrician from Buffalo, New York, who is considered the "father of newborn screening," developed a simple, inexpensive test that could diagnose ________________ from a drop of a baby's blood placed on a piece of filter paper.

Question 14

whats the following terms to the appropriate description.
-Caused by bacteria passed from a mother to her fetus through the placenta, was a devastating disease of newborns before penicillin was discovered.

Question 15

whats the following terms to the appropriate description.
-Causes profound deafness in children whose mothers were infected by the virus while pregnant

Question 16

whats the following terms to the appropriate description.
-A parasitic disease that may go unnoticed in adults, can cause major neurological damage in the fetus

Question 17

whats the following terms to the appropriate description.
-Occurred in Europe and Australia in the early 1960s that was caused the sedative thalidomide

Question 18

whats the disorder with the appropriate description.
-A midlife deterioration of the brain whose best-know victim was the folk singer Woody Guthrie

Question 19

whats the disorder with the appropriate description.
-A type of dwarfism made famous by the French painter Toulouse-Lautrec

Question 20

whats the disorder with the appropriate description.
-Characterized by extreme height and cardiovascular abnormalities which occasionally makes the news after the sudden death of an unsuspecting basketball player

Question 21

whats the disorder with the appropriate description.
-Effects of this disease are less lethal than those of other chromosomal defects and most affected infants survive

Question 22

Which of the following was the blood test for syphilis that was required for all couples about to be married in an effort to identify and treat infected people before they could transmit the disease to a child?

A) Wasserman test
B) Kline test
C) Kahn test
D) Kolmer test

Question 23

What medical condition was identified as the cause of mental retardation in a significant number of institutionalized adults?

A) Tay-Sachs Disease
B) Toxoplasmosis
C) Phenylketonuria
D) Thalassemia

Question 24

What method of laboratory testing searches for more than 20 metabolic disorders in one process, using the dried blood-spot specimen?

A) Photothermal spectroscopy
B) Thermal infrared spectroscopy
C) Photoemission spectroscopy
D) Tandem mass spectroscopy

Question 25

Much more is known about the disruptions of fetal development that lead to birth defects than is known about carcinogenesis.

Question 26

Teratogens are limited to physical and chemical factors such as radiation and carcinogenic compounds.

Question 27

Decades ago, many states required blood tests for syphilis before a marriage license could be granted.

Question 28

Maternal infection with rubella during pregnancy can cause deafness in children.

Question 29

Alcohol has been recognized as a teratogen since the 1970s.

Question 30

In ultra-orthodox communities that practice arranged marriage, a confidential registry was established that allows matchmakers to avoid arranging marriages between carriers of Tay-Sachs and several other debilitating.

Question 31

Birth defects may be caused by a variety of environmental agents, called _________________, which include some bacteria and viruses, various drugs and chemicals, and radiation.

Question 32

____________________ is best prevented by education-warning pregnant women about the risks of contracting the disease through gardening and contact with litter boxes.

Question 33

____________________% of the human genome was mapped during the Human Genome Project.

Question 34

The presence of small genetic variations called ____________________ are being associated with known genetic diseases.

Question 35

Whats the appropriate achievement of the person?
-Famous photographs of the tragedy of Minamata alerted the world to the dangers of environmental pollution.

Question 36

Whats the appropriate achievement of the person?
-Skeptical Food and Drug Administration was suspicious of thalidomide and resisted great pressure from the manufacturer before the dangers became apparent

Question 37

Whats the appropriate achievement of the person?
-Pediatrician from Buffalo, New York who is considered the "father of newborn screening"

Question 38

Whats the appropriate achievement of the person?
-Signed the Genetic Information Nondiscrimination Act which prohibits discrimination by health insurers or employers on the basis of DNA

Question 39

Whats the appropriate decade of the event?
-A plastics factory contaminated the bay in Minamata, Japan with high levels of mercury

Question 40

Whats the appropriate decade of the event?
-Women who took the drug thalidomide to relieve morning sickness gave birth to babies whose arms and legs were drastically shortened into flipper-like appendages

Question 41

Whats the appropriate decade of the event?
-Alcohol was recognized as a teratogen

Question 42

Whats the appropriate decade of the event?
-Dor Yeshorim was established to offer high school students in the United States, Israel, and other countries blood tests to determine if they are carriers