Human Genetics: An Introduction

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Questions and Answers

A patient's genetic test reveals a mutation in a somatic cell. What is the most likely implication of this finding?

The mutation will be passed on to the patient's offspring.
The mutation will be present in all of the patient's cells.
The mutation will alter the patient's genotype but not their phenotype.
The mutation may lead to cancer development in the patient. (correct)

During DNA replication, an error occurs where a single nucleotide is skipped, resulting in a frameshift. What is the most likely consequence of this error?

The resulting protein will have only one amino acid changed.
The ribosome will stall during translation, preventing protein synthesis.
The protein will be slightly shorter, but its function will remain the same.
The amino acid sequence after the mutation will be completely different. (correct)

A child is diagnosed with an autosomal recessive disorder. Both parents are phenotypically normal. What is the probability that their next child will also have the disorder?

25% (correct)
50%
0%
75%

Consider a patient with a genetic condition. A gene sequencing report identifies a microdeletion. What does this finding suggest about the patient's DNA?

A small segment of DNA has been removed from a chromosome. (B) Signup and view all the answers

A dental hygienist is developing a care plan for a child with Down syndrome. Which of the following considerations is the MOST important to address?

Potential for difficulties with cooperation and communication. (D) Signup and view all the answers

A dental student is reviewing basic genetic principles. Which statement best describes the relationship between genes and traits?

Genes provide the blueprint for the potential development of traits, but their expression can be influenced by environmental and epigenetic factors. (B) Signup and view all the answers

A patient presents with a family history of a genetic disorder. What is the most accurate way to describe a gene mutation?

A gene mutation is a change in the DNA sequence that may or may not result in a functional change in the resulting protein. (A) Signup and view all the answers

Considering the role of genetics in dentistry, which of the following scenarios highlights the importance of understanding human genetics?

Diagnosing and managing a patient with a craniofacial disorder like Treacher Collins syndrome. (A) Signup and view all the answers

A dentist notes unusual tooth development in a child and suspects a genetic component. Which initial step would be most appropriate in assessing the potential genetic influence?

Taking a detailed family history, including any instances of similar dental anomalies or related syndromes. (A) Signup and view all the answers

Why is it important for dental professionals to understand the principles of human genetics?

To better understand the aetiology of certain oral conditions and provide comprehensive patient care. (D) Signup and view all the answers

What would be the best method of revision, as per the study guide?

Complete the Moodle activities. (B) Signup and view all the answers

You are treating a patient with Down Syndrome. Why is it important to consider the genetic etiology of their condition when planning their oral healthcare?

The genetic basis can predispose patients to certain oral and systemic manifestations which can impact treatment. (C) Signup and view all the answers

A researcher is investigating the genetic basis of a rare dental anomaly. They identify a gene that appears to be consistently mutated in affected individuals. What is the next logical step to establish a causal relationship between the gene and the anomaly?

Conducting functional studies to determine how the identified gene influences tooth development. (D) Signup and view all the answers

Flashcards

Chromosomes

A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.

Mutation

A change in the DNA sequence of an organism.

Replication

The process of copying DNA to produce two identical DNA molecules.

Phenotype

The set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.