Point Mutations and Protein Function Quiz

Which type of point mutation results in the substitution of one amino acid for another in the coded protein?

Which type of point mutation leads to a stop codon and results in a truncated protein with limited or no function?

Which type of point mutation results in the substitution of a base that encodes the same amino acid?

Which portion of the gene is responsible for posttranslational processing and defective splicing?

Which type of inheritance is characterized by affected offspring usually having one affected parent and an equal number of males and females affected?

Which type of inheritance is characterized by parents of affected individuals being heterozygotes, with an equal number of males and females affected?

Which type of inheritance is characterized by transmission from either parent being vertical, with a sex ratio of twice as many affected females as males?

Which type of inheritance is characterized by transmission from either parent being vertical, with a sex ratio of more affected males than females?

Which type of inheritance is characterized by transmission only from father to son and all males being affected?

Which type of inheritance is characterized by affected female parents having 50% affected sons and 50% affected daughters 50% daughters unaffected; and 50% son unaffected?

Which type of inheritance is characterized by affected male parents having all sons unaffected and all daughters carriers?

Which type of inheritance is characterized by affected female parents having 50% affected sons and 50% unaffected sons and 50% daughters carriers; 50% daughters non-carriers

Which type of inheritance is characterized by affected female parents having 50% affected daughters and 50% non-carrier daughters?

Which type of inheritance is characterized by mtDNA being subject to mutation and inherited maternally?

Daughters affected and sons unaffected?

Sons unaffected Daughters carriers?

Point Mutations

Missense mutation results in the substitution of one amino acid for another in the coded protein.
Nonsense mutation leads to a stop codon and results in a truncated protein with limited or no function.
Silent mutation results in the substitution of a base that encodes the same amino acid.

Gene Processing

The intron region of the gene is responsible for posttranslational processing and defective splicing.

Inheritance Patterns

Autosomal Dominant

Characterized by affected offspring usually having one affected parent and an equal number of males and females affected.

Autosomal Recessive

Characterized by parents of affected individuals being heterozygotes, with an equal number of males and females affected.

X-Linked Dominant

Characterized by transmission from either parent being vertical, with a sex ratio of twice as many affected females as males.

X-Linked Recessive

Characterized by transmission from either parent being vertical, with a sex ratio of more affected males than females.

Y-Linked

Characterized by transmission only from father to son and all males being affected.

Mitochondrial Inheritance

Characterized by mtDNA being subject to mutation and inherited maternally.

X-Linked Recessive (Female Parent)

Affected female parents having 50% affected sons and 50% affected daughters, and 50% daughters unaffected; and 50% sons unaffected.

X-Linked Dominant (Male Parent)

Affected male parents having all sons unaffected and all daughters carriers.

X-Linked Dominant (Female Parent)

Affected female parents having 50% affected daughters and 50% non-carrier daughters.

Mitochondrial Inheritance (Female Parent)

Daughters affected and sons unaffected.

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