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Chromosomal Mutations Gene mutations can occur spontaneously or could be induced

ID: 121896 • Letter: C

Question

Chromosomal Mutations Gene mutations can occur spontaneously or could be induced by exposure to chemicals or radiations. Mutations are of various types, ranging from point mutations to expanding repeats. Each mutation is classified by the way it alters the DNA. Types of Mutation A sentence made of three-letter words can provide an analogy to the effect of mutations on a gene's DNA sequence. Normal THE ONE BIG FLY HAD ONE RED EYE Missense THE ONE BIG FLY HAD ONE RED EYE Nonsense THE ONE BIG Frameshift THE ONE QBI GFL YHA DON ERE DEY Deletion THE ONE BIG HAD ONE RED EYE Insertion THE ONE BIG WET FLY HAD ONE RED EYE Duplication THE ONE BIG FLY FLY HAD ONE RED EYE Expanding mutation Generation 1 THE ONE BIG FLY HAD ONE RED EYE Generation 2 THE ONE BIG FLY FLYFLY HAD ONE RED EYE Generation 3 THE ONE BIG FLY FLYFLYFLYFLY HAD ONE RED EYE Complete the following discussions: Describe a genetic disorder resulting from one of the mutations listed in the table. What is the mode of inheritance of your chosen disorder? What does the affected gene sequence look like in comparison to the normal sequence? What is the change in the amino acid sequence as a result of the disorder? Describe the DNA repair process in eukaryotes. Why do you think this process is absent in mitochondrial DNA? What properties of mitochondrial DNA prevent it from repairing itself? Describe two purposes of performing a karyotype (other than detecting abnormal chromosome numbers). In your opinion, should karyotyping be performed in the early stages of pregnancy to look for genetic disorders? Why or why not? Identify two types of chromosomal abnormalities that can result from addition, deletion, or duplication of genetic material and describe how it happens. Describe a genetic disorder that can result from one of the aberrations identified by you.

Explanation / Answer

1. ANS: Missense is a genetic disorder that results from a single nucleotide mutation changing the code results within a codon that writes the codes for the many different types of aminoacids. Missense also occurs when one DNA nucleotide changes so that way different aminoacids become inserted with a protein.

Since genetic coding has been signaled a red flag for the process of protein termination, the possibility having a codon from one specifying aminoacids to another along with a specifying stop or the ending of the protein.

2. ANS: Eukaryotes are distinct as organisms which have cells with their own distinct nucleus that contains genetic material. The DNA repair process in eukaryotes is as follows:

(1) Enzymes repair the damaged sequence.

(2) Enzyme removes incorrect sequence.

(3) DNA polymerase creates new sequence.

(4) DNA ligase seals sugar phosphate backbone.

There are two chromosomal abnormalities that can result from addition, deletion, or duplication of genetic material are Wolf Hirschornn syndrome and Charcot-Marie-Tooth disease Type 1A.

Wolf Hirschornn syndrome is caused due to the partial deletion of the short arm of chromosome 4.

Charcot-Marie-Tooth disease Type 1A is caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17

Karyotype testing should be performed in early pregnancy to check for any genetic disorder. This testing helps to clear the problem when the baby is still in the womb. In case the disorder is not curable, the child will be aborted.

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