Genetics: Reading Frame Shift Mutation

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Questions and Answers

A 'reading frame shift' mutation occurs when:

Pyrimidine is replaced by purine.

One or more nucleotides is deleted or inserted (not a multiple of three). (correct)

The number of repetitive sequences in the gene is increased.

All the options listed are suitable.

What is polyploidy?

Chromosome number change by a repeated set of chromosomes.

Chromosome number change with the number of certain chromosomes. (correct)

Chromosome structural changes.

There is no correct answer.

The severe form of alpha-1 antitrypsin deficiency is the result of a single nucleotide leading to a single amino acid substitution. This is best described as a:

Nonsense mutation

Splice-site mutation

Frameshift mutation

Missense mutation (correct)

Adenine is replaced by thymine. What is this nucleotide substitution called?

Transversion Signup and view all the answers

Which of the following is an example of monosomy?

45,X Signup and view all the answers

A fetus with a karyotype of 92, XXXX has which type of mutation and what is the sex of the fetus?

Polyploidy, female sex Signup and view all the answers

Adenine was replaced by guanine. What type of nucleotide substitution is this?

Transition Signup and view all the answers

Child karyotype 47, XX, + 21. What is this mutation and when did it oeeur?

Aneuploidy, during parental gametogenesis Signup and view all the answers

What is the name of the chromosome mutation that involves two breaks on a chromosome followed by a 180-degree turn of the segment and reinsertion at its original breakpoints?

Inversion Signup and view all the answers

A 'reading frame' shift mutation occurs when:

One or more nucleotides is inserted or deleted (not a multiple of three). Signup and view all the answers

In a karyotype of 46 XX, how many Barr bodies will be present in the interphase nucleus of somatic cells?

one Signup and view all the answers

The karyotype 46,XX del(5p) indicates which of the following?

5 autosome short arm deletion Signup and view all the answers

Which of the following changes is a transversion base substitution?

Adenine is replaced by thymine Signup and view all the answers

what is neutral mutation

codes for different amino acid which does not change the protein function Signup and view all the answers

Study Notes

Reading Frame Shift Mutations

A reading frame shift mutation alters the grouping of codons during translation, changing the amino acid sequence and potentially the protein's function.

Polyploidy

Polyploidy is a condition where an organism has more than two complete sets of chromosomes.

Alpha-1 Antitrypsin Deficiency

Severe alpha-1 antitrypsin deficiency arises from a single nucleotide change causing a single amino acid substitution. This is a missense mutation.

Adenine to Thymine Substitution

Replacing adenine with thymine is a transition mutation (purine to purine).

Monosomy Example

The provided text doesn't offer examples of monosomy. Monosomy is when a cell or organism only has one copy of a particular chromosome instead of the usual two.

Karyotype 92, XXXX

A karyotype of 92, XXXX indicates tetraploidy (four sets of chromosomes) and a female fetus.

Adenine to Guanine Substitution

Replacing adenine with guanine is a transversion mutation (purine to pyrimidine).

Karyotype 47, XX, +21

This karyotype shows trisomy 21 (Down syndrome). The mutation occurred during gamete formation (meiosis) or very early in embryonic development.

180-Degree Chromosome Turn

The chromosome mutation described is an inversion.

Barr Bodies in 46, XX Karyotype

A 46, XX karyotype will have one Barr body in the interphase nucleus of somatic cells.

Karyotype 46,XX del(5p)

46,XX del(5p) indicates a deletion on the short arm (p) of chromosome 5.

Transversion Base Substitution

A transversion base substitution involves replacing a purine with a pyrimidine or vice versa (e.g., adenine to cytosine, or guanine to thymine).

Neutral Mutation

A neutral mutation is a change in the DNA sequence that has no effect on the organism's phenotype.

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Description

This quiz explores the concept of reading frame shift mutations in genetics. Participants will learn about how these mutations affect protein synthesis and their implications for genetic disorders. Test your understanding of genetic mutations and their consequences.