Human Genetic Disorders

How many genetic disorders are knows

• three

• about 20

• about 100

• thousands

The inherited disease in which hemoglobin molecules clump into long fibers, changing the shape of blood cells is

• cystic fibrosis

• sickle cell disease

• Huntington's disease

• Klinefelter's syndrome

Tags

NGSS.HS-LS3-1

NGSS.HS-LS3-2

What happens to the CFTR gene in individuals who have cystic fibrosis?

• The entire gene is deleted

• The entire gene is duplicated

• Three bases are deleted, causing one amino acid to be missing

• Three bases are duplicated, causing one amino acid show up about 40 times

Tags

NGSS.HS-LS3-1

NGSS.HS-LS3-2

Why are individuals who are heterozygous for the cystic fibrosis allele unaffected by the disease?

• They have an extra copy of the allele on their X-chromosome

• Cystic fibrosis only occurs in males, so females are unaffected

• They make enough of a particular protein to allow their cells to work properly

• Their cells can transport chloride ions through diffusion channels

How might the allele that causes a disease stay in the population if it is fatal to those who have the disease?

• It is present only in heterozygous

• It makes the heterozygous resistant to a fatal disease

• It disappears but it is continuously replaced by mutations

• It occurs only in certain geographic areas

What advantage do individuals with one sickle cell allele have?

• a stronger resistance to malaria

• immunity to typhoid fever

• more rigid red blood cells

• no advantage

Tags

NGSS.HS-LS4-5

Hemophilia is a recessive sex-linked genetic disorder. A woman is a carrier for hemophilia. Her husband does not have hemophilia. What are the chances that one of their daughters will have hemophilia?

• 0%

• 25%

• 50%

• 100%

Tags

NGSS.HS-LS3-1

NGSS.HS-LS3-2

NGSS.HS-LS3-3

A man with hemophilia marries a woman who does not have the allele for hemophilia. Which statement is true of their children?

• Their daughters will have hemophilia

• Their daughters will carry the hemophilia trait

• Their sons will have hemophilia

• Their sons will carry the hemophilia trait

Tags

NGSS.HS-LS3-1

NGSS.HS-LS3-2

A woman is a carrier for hemophilia. Her husband has hemophilia. What are the chances that their sons will have hemophilia?

• 0%

• 25%

• 50%

• 100%

A mutation involving a change in a single DNA base pair

• will definitely result in a genetic disease

• will have no effect on the organism's phenotype

• will produce a positive change

• may have an effect on the organism's phenotype