Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.
Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

Accepted Answer

Hey, everyone. Let's take a look at this question together a point mutation that results in the creation of a premature stop codon in the DNA sequence resulting in the production of a truncated protein is termed, what is it? Answer choice. A, a silence mutation, answer choice B A nonsense mutation, answer choice C splice type mutation or answer choice D A frameshift mutation. Let's work this problem out together to try to figure out which of the following types of mutations results in the creation of a premature stop codon in the DNA sequence. So we know that the term point mutation describes a mutation that involves a change of a single nucleotide base. And we are looking for a type of point mutation that results in the creation of a premature stop codon in the DNA sequence resulting in the production of a truncated protein, which the term truncated means shorter than the wild type protein. And so a point mutation, which is that mutation that changes a single nucleotide base, specifically a change that creates a premature stop codon is a type of point mutation that is called a non sense mutation because a nonsense mutation is a type of point mutation that creates that premature stop codon in the DNA sequence leading to the formation of a shortened protein because the stop codon signals the end of protein synthesis. So answer choice B nonsense mutation is the correct answer. I hope you found this video to be helpful. Thank you and goodbye.

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Key Concepts

Tay-Sachs Disease (TSD) and Its Genetic Basis

Population Genetics and Carrier Frequency

Founder Effect and Genetic Drift in Specific Populations