chapter 12

Question 1

This type of disorder is one of several ways that a trait/disorder can be passed down through families. If a disease is autosomal dominant, it means you only need to get the abnormal gene from 1 parent to inherit the disease.

Answer 1

autosomal dominant disorder

Question 2

a disorder in which 2 copies of an abnormal gene must be present in order for the disease/trait to develop

Answer 2

autosomal recessive disorder

Question 3

a substance/agent known to cause cancer

Answer 3

carcinogen

Question 4

threadlike structure of nucleic acids & protein found in the nucleus of most living cells, carrying genetic info in the form of genes.

Answer 4

chromosome

Question 5

a disorder/disease present at birth is known as a ____ disorder/disease.

Answer 5

congenital

Question 6

The unit of hereditary info passed from parents to offspring is the totality of genetic information contained in DNA (except for some viruses that use RNA), which determines the way the offspring develops.

Answer 6

Gene

Question 7

Diseases caused by an abnormality in an individual’s genome.

Answer 7

genetic diseases

Question 8

branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes

Answer 8

genomics

Question 9

an international scientific research project set up to determine the sequence of chemical base pairs that make up human DNA, & of identifying & mapping all of the genes of the human genome from both a physical & functional standpoint.

Answer 9

Human genome project

Question 10

Weight at birth of less than 2,500 grams

Answer 10

Low birth weight

Question 11

The village in southern Japan made famous by the poisoning of its population in 1950s by mercury released into the bay by a plastics factory. Most severely affected were children born with severe brain damage to mothers who’d been exposed while pregnant.

Answer 11

Minamata

Question 12

a public health program designed to screen infants shortly after birth for a list of conditions that are treatable but not clinically evident in the newborn period.

Answer 12

Newborn screening

Question 13

testing for diseases or conditions in a fetus/embryo before it’s born.

Answer 13

prenatal testing

Question 14

substance or agent that causes birth defects

Answer 14

teratogens

Question 15

Disorders that are caused by a defective gene on the female sex chromosome. The disease occurs predominantly in males. Since females have 2 of these chromosomes, inheritance of the faulty gene has minimal impact on them because of the second normal gene’s presence.

Answer 15

X-linked disorders

Question 16

Dor Yeshorim, established in the 1980s by a rabbi who had lost 4 children, offer Jewish high-school students in the US, Israel, & other countries blood tests to determine if they’re carriers of what disease?

Answer 16

Tay-Sachs disease.

Question 17

TRUE OR FALSE:
If a woman takes dietary supplements of folic acid before conception & during early pregnancy, her infant’s risk of devastating genetic conditions is substantially reduced.

Answer 17

TRUE

Question 18

TRUE OR FALSE:
Every cell in a human fetus has 48 chromosomes

Answer 18

FALSE

Question 19

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

Answer 19

TRUE

Question 20

TRUE OR FALSE:
The screening test for cystic fibrosis, which measures enzyme in the blood, yields many false negatives

Answer 20

FALSE

Question 21

TRUE OR FALSE:
Most children born with Tay-Sachs disease die by age 4.

Answer 21

TRUE

Question 22

TRUE OR FALSE:
The most effective intervention currently available for BRCA carriers is the surgical removal of a woman’s breasts & ovaries

Answer 22

TRUE

Question 23

The (mother/father) carries the gene for Huntington’s disease on one pair of chromosomes.

Answer 23

Father

Question 24

If both parents are carriers of a recessive gene for a genetic disease, what percent of their children will have the disease?

Answer 24

25%

Question 25

Dr. Robert Guthrie (father of newborn screening), a pediatrician from Buffalo, NY, developed a simple, inexpensive test that could diagnose what from a drop of baby’s blood placed on a piece of filter paper?

Answer 25

Phenylketonuria (PKU)

Question 26

What is caused by bacteria passed from the mother to her fetus through the placenta & was a devastating disease of newborns before penicillin was developed?

Answer 26

Congenital Syphilis

Question 27

What causes profound deafness in children whose mothers were infected by the virus while pregnant?

Answer 27

Rubella

Question 28

A parasitic disease that may go unnoticed in adults, but can cause major neurological damage in the fetus.

Answer 28

Toxoplasmosis

Question 29

This newborn defect occurred in Europe & Australia in the early 19060s and was caused by the sedative thalidomide.

Answer 29

limb deformities

Question 30

a midlife deterioration of the brain

Answer 30

Huntington’s disease

Question 31

a type of dwarfism

Answer 31

Achondroplasia

Question 32

Characterized by extreme height & cardiovascular abnormalities which occasionally makes the news after the sudden death of an unsuspecting basketball player

Answer 32

Marfan syndrome

Question 33

effects of this disease are less lethal than those of other chromosomal defects & most affected infants survive

Answer 33

Down syndrome