Mutations and Pedigrees Quiz

Question 1

Gene Mutations

Answer 1

Happen during DNA replication = A change to the original DNA sequence

Question 2

Point Mutation

Answer 2

Gene mutation. Substitutes one nucleotide for another.

Question 3

Frameshift Mutations

Answer 3

Gene mutation. The insertion or deletion of a nucleotide. These will affect all the codons that come after the insertion/deletion.

Question 4

Chromosome Mutation

Answer 4

Happen during meiosis = Changes the number or location of genes

Question 5

Duplication

Answer 5

Chromosome mutation. Changes the size of chromosomes and results in multiple copies of a single gene.

Question 6

Translocation

Answer 6

Chromosome mutation. Pieces of non-homologous chromosomes exchange segments (during crossing over)

Question 7

Nondisjunction

Answer 7

Chromosome mutation. Chromosomes do not separate correctly during anaphase, resulting in one or three chromosomes rather than two per cell

Question 8

Where do mutations occur?

Answer 8

Mutations can occur in any cell in the body

Question 9

What types of mutations do and don’t get passed on?

Answer 9

Germline mutations (that occur in gametes - eggs and sperm) can be passed on to offspring. Somatic mutations (that occur in body cells) are not.

Question 10

Carrier

Answer 10

Someone who carries a mutated gene for a genetic condition but doesn’t exhibit the condition themselves, and can pass the mutated gene to their children

Question 11

Sex-Linked Traits. Examples (3).

Answer 11

Caused by the presence of an allele on the X chromosome. Examples: Color blindness, hemophilia, muscular dystrophy

Question 12

What are the four types of inheritance on a pedigree?

Answer 12

Autosomal dominant
Autosomal recessive
X-Linked Dominant
X-Linked Recessive

Question 13

Pedigree: How to Determine Dominant or Recessive

Answer 13

1. Look for two parents that are the same shade that are the same shade that have a child who is different from them.
2. Label that child homozygous recessive (rr) and the parents heterozygous (Rr)
3. -If the child was shaded, the pedigree is tracking a Autosomal Recessive Trait.
   -If the parents were shaded, the pedigree is tracking a Autosomal Dominant Trait.

Question 14

Pedigree: How to Determine Autosomal or X-Linked

Answer 14

Do affected males have affected sons?
Yes - Autosomal
No - X-linked

Is the trait equally distributed among both males and females?*
Yes - (probably) autosomal
No - X-linked (recessive)
*only applies to recessive x-linked

Question 15

In what gene does Susannah Rosen have her mutation?

Answer 15

KIF1A gene