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Questions and Answers
Which type of point mutation results in the substitution of one amino acid for another in the coded protein?
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 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 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 portion of the gene is responsible for posttranslational processing and defective splicing?
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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 affected offspring usually having one affected parent and an equal number of males and females affected?
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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 parents of affected individuals being heterozygotes, with an equal number of males and females affected?
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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 twice as many affected females as males?
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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 from either parent being vertical, with a sex ratio of more affected males than females?
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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 transmission only from father to son and all males being affected?
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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 female parents having 50% affected sons and 50% affected daughters 50% daughters unaffected; and 50% son unaffected?
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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 male parents having all sons unaffected and all daughters carriers?
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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 sons and 50% unaffected sons and 50% daughters carriers; 50% daughters non-carriers
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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 affected female parents having 50% affected daughters and 50% non-carrier daughters?
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Which type of inheritance is characterized by mtDNA being subject to mutation and inherited maternally?
Which type of inheritance is characterized by mtDNA being subject to mutation and inherited maternally?
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Daughters affected and sons unaffected?
Daughters affected and sons unaffected?
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Sons unaffected Daughters carriers?
Sons unaffected Daughters carriers?
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Skipped generation?
Skipped generation?
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Study Notes
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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Description
Test your knowledge on point mutations and their effects on protein function with this quiz. Learn about missense mutations, conservative and nonconservative substitutions, as well as nonsense mutations and their impact on protein structure and function.
