Genetics Overview Quiz

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Questions and Answers

Match the following terms with their definitions:

Genetics = The study of genes and their role in inheritance. Genomics = The study of all a person's genes and their interactions. Genetic mutation = Any change in the usual DNA sequence. Epigenetics = The study of inheritable changes in gene expression not involving changes to the DNA sequence.

Match the mutation type with its characteristics:

Germline mutations = Present in the egg and sperm cells and throughout a person's life. Acquired (somatic) mutations = Occur in a cell's DNA during a person's life and cannot be passed on to offspring. Autosomal dominant = Caused by a mutation of a single gene pair on a chromosome. Autosomal recessive = Caused by mutations of two gene pairs on a chromosome.

Match the following terms with the correct description:

Genetics = Focuses on individual genes and their specific traits. Genomics = Considers the entire set of genes and their interactions with the environment. Genetic mutation = Alterations in DNA that can lead to changes in protein production Epigenetics = Changes that affect gene expression without altering DNA sequence.

Match each type of mutation with how it is inherited:

Germline mutations = Inherited from a parent. Acquired (somatic) mutations = Occur during a person's lifetime. Autosomal dominant = A mutation on non-sex chromosomes that only needs one copy to express the trait Autosomal recessive = A mutation on non-sex chromosomes that needs two copies to express the trait. Signup and view all the answers

Match the definitions with their corresponding terms:

Genetics = Study of heredity and its variations Genomics = Study of entire set of genes (genome) Mutation = A variation in DNA sequence Epigenetics = Study of changes in gene expression without altering DNA Signup and view all the answers

Match the inheritance patterns with their characteristics:

Autosomal dominant = Only one copy of the mutated gene is required for expression. Autosomal recessive = Two copies of the mutated gene are necessary for expression. X-linked recessive = Mutation is carried on the X chromosome, mainly affecting males. Germline mutations = Mutations that are present in egg and sperm. Signup and view all the answers

Match the terms with their relevant explanations:

Heterozygous = Possessing two different alleles of a gene Acquired (somatic) mutations = Changes in DNA occurring during a person's life Germline mutations = Mutations inherited from parents, present throughout the body. X-linked recessive = More prevalent in males due to one X chromosome. Signup and view all the answers

Match the terms with their descriptions:

Homozygous = Having two identical alleles for a gene Heterozygous = Having two different alleles for a gene Allele = Alternative forms of a gene at a specific locus Locus = Position of a gene on a chromosome Signup and view all the answers

Match the genetic terms with their definitions:

Gene = Unit of heredity encoding a functional product Genotype = The entire complex of genes inherited Phenotype = Observable characteristics of an individual DNA = Stores genetic information and encodes instructions Signup and view all the answers

Match the chromosomal terms with their descriptions:

Chromosome = Structures containing genetic information Autosome = A non-sex chromosome X Chromosome = One of the two sex chromosomes Y Chromosome = The other of the two sex chromosomes Signup and view all the answers

Match the terms related to genetic studies with their focus:

Pharmacogenetics = Study of drug response variations related to single genes Pharmacogenomics = Study of drug response variations related to multiple genes or a person's genome Genetics = Study of heredity and its variation Genomics = Study of the entire genome Signup and view all the answers

Match the types of genetic disorders with their causes:

Single gene disorder = Mutation in one gene Multifactorial inheritance disorder = Mutations in multiple genes and environmental factors Chromosome disorder = Changes in chromosome number or structure Mitochondrial Disorder = Mutation in mitochondrial DNA Signup and view all the answers

Match the terms related to genetic testing:

Positive genetic test result = Indicates a change in a gene, chromosome, or protein under consideration Negative genetic test result = Indicates that no altered form was found Carrier = Having a gene mutation that does not manifest a disease Genetic testing = Analysis of a genetic material to identify mutations Signup and view all the answers

Match the descriptions of effects of genetic testing and what type of finding it matches to:

Confirm a diagnosis = A positive genetic testing result Show a person is a carrier = A positive genetic testing result Identify an increased risk = A positive genetic testing result No altered gene form is found = A negative genetic testing result Signup and view all the answers

Match the clinical manifestation of cystic fibrosis with the affected system:

Steatorrhea = Digestive system Wheezing = Respiratory system Nasal polyps = Respiratory system Vitamin K deficiency = Digestive system Signup and view all the answers

Match the genetic terms with their significance or function:

Gene = Encode for a specific functional products like RNA Chromosome = Carry genetic information in the form of genes Allele = Contribute to specific traits DNA = Stores all the genetic information needed Signup and view all the answers

Match the symptom with the underlying pathophysiology in cystic fibrosis:

Dry, nonproductive cough = Early sign of respiratory issues Digital clubbing = Hypoxia Malnutrition = Inability to absorb fats Emphysema = Airway obstruction Signup and view all the answers

Match the vitamin deficiency with its associated clinical finding in cystic fibrosis:

Vitamin A deficiency = Xerophthalmia Vitamin K deficiency = Bleeding Vitamin D deficiency = Not specified Vitamin E deficiency = Not specified Signup and view all the answers

Match the progression of pulmonary symptoms with the disease stage in cystic fibrosis:

Occasional wheezing, dry cough = Early stage Increased cough, dyspnea; crackles = Intermediate stage Pulmonale and heart failure = Late stage Spontaneous pneumothorax = Late stage Signup and view all the answers

Match the term with its associated description in cystic fibrosis:

Atelectasis = Collapsed lung Steatorrhea = Frothy, foul-smelling stool Hemoptysis = Blood-stained sputum Pulmonale = Heart failure due to lung changes Signup and view all the answers

Match the genetic testing type with its corresponding description:

Predictive genetic testing = Identifies risk for developing certain disorders Diagnostic genetic testing = Confirms a specific genetic or chromosomal condition DNA microarray = Identifies changes in gene sequences or if certain genes are turned off Genome-Wide Association Study (GWAS) = Scans genomes to find genetic variations associated with specific diseases Signup and view all the answers

Match the genetic technology with its primary function:

DNA fingerprinting = Extracts DNA from cells in various samples Polymerase chain reaction (PCR) = Provides unlimited copies of a DNA or RNA sequence Gene therapy = Treats underlying causes of disease by supplying a missing gene or enhancing treatments Stem Cells = Unspecialized cells with ability to specialize into other cell types Signup and view all the answers

Match the type of cell with its developmental capacity:

Totipotent cells = Produce all cell types of a developing organism Pluripotent cells = Make any cell of the embryo Multipotent cells = Make cells within a specific germ layer Unipotent cells = Make a single cell type Signup and view all the answers

Match the clinical concept with its relevant example:

X-linked recessive disorder = Hemophilia Genetic testing = Identifying BRCA mutations for breast cancer risk Gene therapy application = Supplying a missing gene for a disease Nursing role in genomics = Supporting patients through decisions related to genetic testing Signup and view all the answers

Match the genetic technology with its application:

DNA fingerprinting = Forensic medicine Polymerase chain reaction (PCR) = Genetic fingerprinting DNA microarray = Identifying whether genes are turned off Genome-Wide Association Study (GWAS) = Scanning genomes for variations associated with a specific disease Signup and view all the answers

Match the stem cell's characteristic with it's description

Totipotent cells = Can make all cell types of an organism. Multipotent cells = Can only make cells within a specific germ layer. Pluripotent cells = Can make any body cell, makes all cells of the embryo. Unipotent cells = Makes a single cell type. Signup and view all the answers

Connect the nursing role to an action:

Understanding genetics = Comprehending the impact of genetics on health Patient decision support = Assisting in decisions related to genetic issues Resource provision = Offering information and support Collaboration with healthcare team = Working with genetics nurses and counselors Signup and view all the answers

Match the given disease with its brief description:

Hemophilia = Caused by a mutation on the X chromosome Cystic Fibrosis = A genetic disorder that affects mucus production Sickle cell disease = A blood disorder caused by a mutation in the hemoglobin gene Polycystic kidney disease = A progressive disorder in which cysts form in the kidneys Signup and view all the answers

Match the following symptoms with their corresponding cause or characteristic in Cystic Fibrosis (CF):

High sodium and chloride in sweat = Early sign of CF, often reported as 'salty taste' Delayed secondary sex characteristics = Endocrine dysfunction typically in a two-year delay Thickened cervical mucus = Female reproductive issue impacting fertility Sterility in males = Lack of sperm production in a high percentage of male CF patients Signup and view all the answers

Match the following complications or manifestations to their corresponding CF physiological cause:

Impaired gas exchange = Direct result of thick secretions and airway obstruction Pulmonary Vasoconstriction = Leads to increased pulmonary vascular resistance and heart strain Malabsorption = Inadequate pancreatic enzymes for digesting food Chronic infections = Result of mucus stasis in lungs and susceptibility to bacteria Signup and view all the answers

Match the following therapies with their respective actions in managing Cystic Fibrosis (CF):

Mucolytic = Mobilizes and clears thick mucus secretions Bronchodilator = Relaxes airway muscles to improve breathing CFTR potentiator = Enhances CFTR protein function to facilitate chloride transport Pancreatic enzymes = Aids in digesting food due to pancreatic insufficiency Signup and view all the answers

Match the following CF-related treatment instructions with their rational:

Administer pancreatic enzymes with meals = Ensures proper digestion and absorption of nutrients Avoid mixing pancreatic enzymes with hot foods = Prevents inactivation of the enzymes Monitor stool color, consistency, and frequency = Helps in adjusting enzyme dosage Supplement with vitamins A, D, E, and K = Addresses deficiencies due to fat malabsorption Signup and view all the answers

Match the following clinical findings with their corresponding CF manifestation:

Frequent Respiratory Infections = Due to mucus buildup in airways, creating a breeding ground for bacteria Dry Mouth = A common complaint seen with fluid imbalances in CF Poor weight gain = Consequence of malabsorption due to pancreatic insufficiency Dehydration = Resulting from excess electrolyte loss in sweat Signup and view all the answers

Match the outcome to the process that leads to it related to CF:

Airway Obstruction = Directly caused by abnormally thick secretions Inflammation = Response to obstruction and chronic infection in lungs Pulmonary Vasoconstriction = Increased resistance in blood vessels of the lungs Respiratory Failure = Severe progression of lung disease and impaired gas exchange Signup and view all the answers

Match the following CF complications with their possible resulting symptom:

Hypoxia = Insufficient oxygen in body tissues Hypercapnia = Elevated carbon dioxide levels in the blood Acidosis = Imbalance in body's acid-base causing reduced pH Pulmonary Fibrosis = Scarring and stiffening of lung tissue Signup and view all the answers

Match the following CF complications with the potential cardiovascular outcome:

Pulmonary Vasoconstriction = Results in increased resistance in the pulmonary circulation Pulmonary Vascular Resistance = Can lead to enlargement of the right ventricle Enlargement of R. Ventricle = Can contribute to congestive heart failure Congestive Heart Failure = May lead to overall cardiovascular decline and eventual death Signup and view all the answers

Study Notes

Genetics

Genetics is the study of genes and their role in inheritance, determining how traits and conditions are passed down. It impacts health and disease.
Genomics studies all a person's genes (genome), as well as the interactions between genes and the environment. Complex diseases are typically caused by a combination of both factors, rather than a single gene.
A genetic mutation is a change in the usual DNA sequence, ranging from a single base to a large segment. Mutations can affect the type and/or amount of protein produced, potentially altering its function.
Germline mutations are inherited from parents and are present in every cell throughout a person's life, passed from the parent's egg or sperm cells.
Somatic mutations occur during a person's lifetime in cells other than those that produce sperm or egg cells. Somatic mutations are not passed to offspring. They can occur due to DNA replication errors during cell division and/or environmental factors.
Autosomal dominant traits are caused by mutations on a single gene pair on a non-sex chromosome. A dominant allele will always be expressed, regardless of the other allele present.
Autosomal recessive traits require mutations on both copies of the gene pair on a non-sex chromosome for the trait to be expressed. If a person only inherits one recessive allele, they are considered a carrier.
X-linked recessive traits are carried on the X chromosome. The effects are often more severe in males because they only have one X chromosome.

Epigenetics

Epigenetics is the study of inheritable changes in gene expression that occur without changes to the DNA sequence.

Genetic Disorders

Genetic disorders can be caused by mutations in a single gene, mutations in multiple genes, or damage to chromosomes.
Mutations in single genes can cause single gene disorders.
Mutations in multiple genes can lead to multifactorial inheritance disorders, often related to environmental factors.
Damage to chromosomes can lead to changes in the number or structure of chromosomes.

Genetic Testing

Genetic testing is used to search for genetic mutations or variations.
Results can help with diagnosis, identifying carriers of mutations, determining increased risk for developing a disease, and informing further testing.
The Genetic Information Non-discrimination Act (GINA) protects individuals from discrimination based on their genetic information in employment and insurance.

Technology Used for Genetic Testing

DNA fingerprinting extracts DNA from samples of blood, saliva, semen, for genetic testing.
Polymerase chain reaction (PCR) rapidly copies DNA or RNA sequences from a small sample.
DNA microarray (chip) can identify changes in gene sequences or the activity of genes.
Genome-wide association studies (GWAS) analyze complete sets of DNA to link variations to disease development or progression.

Gene Therapy

Gene therapy is an experimental technique that aims to treat the cause of a disease by altering a faulty gene. Techniques may involve supplying a missing gene, providing the missing gene's role, or enhancing the treatment of the disease.

Stem Cells

Stem cells are unspecialized cells in the body with the potential to remain unspecialized or differentiate into specialized cells.
Totipotent stem cells can produce all cell types of a developing organism; Pluripotent cells form all cells in the developing embryo; Multipotent cells form cells in specific germ layers; and Unapotent cells form a single cell type.

Nursing Management: Genetics

Nurses need to understand the impact of genetics on health and illness, help patients and families make decisions regarding genetic issues like testing, provide resources, and collaborate with other healthcare professionals.

Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by abnormally thick mucus secretions, often obstructing organs like the lungs and pancreas, which can lead to various complications, especially respiratory and digestive issues.
Elevated sodium and chloride levels in sweat are also a key symptom.
Treatment and management strategies for CF aim to alleviate airway obstruction, reduce bacteria in the lungs, address the infection, and provide nutritional support including enzyme supplements.

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Description

Test your knowledge on the basics of genetics, including the roles of genes in inheritance and the impact of mutations. This quiz covers key concepts such as germline and somatic mutations, as well as genomics. Discover how these factors contribute to health and disease.