Podcast
Questions and Answers
Which of the following scenarios can lead to a genetic disease?
Which of the following scenarios can lead to a genetic disease?
- Having one or more abnormal genes.
- Having missing genes.
- Having extra genes.
- All of the above. (correct)
Genes, as the building blocks of heredity, are created during an organism's development and are not passed down from parents.
Genes, as the building blocks of heredity, are created during an organism's development and are not passed down from parents.
False (B)
What are the four nucleic acids that combine in different ways to form DNA?
What are the four nucleic acids that combine in different ways to form DNA?
adenine, thymine, cytosine, guanine
In human cells, there are typically ______ pairs of chromosomes.
In human cells, there are typically ______ pairs of chromosomes.
Match the following terms with their correct association in genetics:
Match the following terms with their correct association in genetics:
Which of the following statements accurately describes the role of proteins in cells?
Which of the following statements accurately describes the role of proteins in cells?
Mutations in genes always lead to genetic disorders.
Mutations in genes always lead to genetic disorders.
What term describes a change in a gene or genes that can lead to genetic disorders?
What term describes a change in a gene or genes that can lead to genetic disorders?
The term for inheriting a gene mutation from one or both parents is ______.
The term for inheriting a gene mutation from one or both parents is ______.
Match each type of cell with its role in transmitting hereditary mutations:
Match each type of cell with its role in transmitting hereditary mutations:
If an individual is a carrier for a genetic disorder, which statement is most accurate?
If an individual is a carrier for a genetic disorder, which statement is most accurate?
Genetic conditions are always inherited from parents and cannot occur spontaneously.
Genetic conditions are always inherited from parents and cannot occur spontaneously.
What term describes mutations that occur during a person's lifetime and are present only in certain cells?
What term describes mutations that occur during a person's lifetime and are present only in certain cells?
A hereditary mutation, also known as a ______ mutation, is present in virtually every cell in the body because it is inherited from a parent.
A hereditary mutation, also known as a ______ mutation, is present in virtually every cell in the body because it is inherited from a parent.
Connect each type of genetic disorder with its primary characteristic:
Connect each type of genetic disorder with its primary characteristic:
Which genetic disorder is caused by mutations in multiple genes, influenced by lifestyle and environmental factors?
Which genetic disorder is caused by mutations in multiple genes, influenced by lifestyle and environmental factors?
Genetic tests are only useful for diagnosing diseases in unborn babies.
Genetic tests are only useful for diagnosing diseases in unborn babies.
Name three methods used to diagnose genetic disorders.
Name three methods used to diagnose genetic disorders.
Prenatal diagnosis can detect fetal abnormalities through ultrasound or invasive procedures such as ______, which involves inserting probes into the uterus.
Prenatal diagnosis can detect fetal abnormalities through ultrasound or invasive procedures such as ______, which involves inserting probes into the uterus.
Match each diagnostic method with its focus in identifying genetic disorders:
Match each diagnostic method with its focus in identifying genetic disorders:
Which of the following is an autosomal dominant disorder?
Which of the following is an autosomal dominant disorder?
Symptoms of Huntington's Disease always begin in childhood.
Symptoms of Huntington's Disease always begin in childhood.
What are the symptoms of Huntington's disease. Name at least 3?
What are the symptoms of Huntington's disease. Name at least 3?
Down Syndrome, which typically appears in older expectant mothers, appears when an extra copy of genes occurs on chromosome ______.
Down Syndrome, which typically appears in older expectant mothers, appears when an extra copy of genes occurs on chromosome ______.
Connect each type of Down syndrome with its cause:
Connect each type of Down syndrome with its cause:
Which of the following statements accurately describes trisomy 21?
Which of the following statements accurately describes trisomy 21?
Duchenne Muscular Dystrophy typically shows itself after the age of 6.
Duchenne Muscular Dystrophy typically shows itself after the age of 6.
What are the the symptoms for Duchenne Muscular Dystrophy?
What are the the symptoms for Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy often causes fatigue and muscle weakness that progresses, leading individuals to be wheelchair-bound by age ______.
Duchenne Muscular Dystrophy often causes fatigue and muscle weakness that progresses, leading individuals to be wheelchair-bound by age ______.
Match each disorder with its typical onset or characteristic:
Match each disorder with its typical onset or characteristic:
Treatments in genetic conditions focus primarily on:
Treatments in genetic conditions focus primarily on:
Since a healthy gene is introduced to a patient, gene therapy is considered a cure to genetic disorders.
Since a healthy gene is introduced to a patient, gene therapy is considered a cure to genetic disorders.
Why is delivery of genes
considered a major problem in gene therapy?
Why is delivery of genes
considered a major problem in gene therapy?
Not all genetic disorders directly result in death however there are no known ______ for genetic disorders
Not all genetic disorders directly result in death however there are no known ______ for genetic disorders
Match each genetic condition with its typical effect on the individual.
Match each genetic condition with its typical effect on the individual.
If a geneticist suspects a new patient has a genetic disorder, which of the following is the first course of action they should most likely take?
If a geneticist suspects a new patient has a genetic disorder, which of the following is the first course of action they should most likely take?
If somebody has a genetic mutation, they will express the properties of that genetic mutation during their entire lifetime.
If somebody has a genetic mutation, they will express the properties of that genetic mutation during their entire lifetime.
What are genetic tests?
What are genetic tests?
Genetic conditions are usually ______, meaning that they are passed down from parents to their children.
Genetic conditions are usually ______, meaning that they are passed down from parents to their children.
Connect each with the term associated
Connect each with the term associated
In the context of genetic disorders, what is the primary role of proteins within cells?
In the context of genetic disorders, what is the primary role of proteins within cells?
A genetic mutation in a parent's somatic cells will always be inherited by their offspring.
A genetic mutation in a parent's somatic cells will always be inherited by their offspring.
What are the implications for offspring if a parent has Huntington's Disease, given that it is an autosomal dominant disorder?
What are the implications for offspring if a parent has Huntington's Disease, given that it is an autosomal dominant disorder?
The genetic condition known as Trisomy 21, commonly referred to as _______, is caused by an additional copy of chromosome 21.
The genetic condition known as Trisomy 21, commonly referred to as _______, is caused by an additional copy of chromosome 21.
Match the prenatal diagnostic procedure with its primary diagnostic method:
Match the prenatal diagnostic procedure with its primary diagnostic method:
Flashcards
What are genetic disorders?
What are genetic disorders?
A disease caused by abnormalities in genes or chromosomes.
What are genes?
What are genes?
Building blocks of heredity, passed from parent to child.
What is DNA?
What is DNA?
Molecule containing an individual's genes, found in cells.
What are nucleic acids?
What are nucleic acids?
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What is the role of proteins in cells?
What is the role of proteins in cells?
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What is a mutation?
What is a mutation?
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What is the effect of mutation on protein production?
What is the effect of mutation on protein production?
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What is a genetic disorder?
What is a genetic disorder?
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What is gene mutation?
What is gene mutation?
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How many does each person has pairs of chromosomes?
How many does each person has pairs of chromosomes?
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What are sex chromosomes?
What are sex chromosomes?
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What is the difference between male and female chromosomes?
What is the difference between male and female chromosomes?
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What are mutations in sex chromosomes?
What are mutations in sex chromosomes?
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What is an autosomal recessive trait?
What is an autosomal recessive trait?
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What is genetic 'carriers'?
What is genetic 'carriers'?
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What does inherited mean?
What does inherited mean?
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What causes some genetic disorder?
What causes some genetic disorder?
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Gene mutation
Gene mutation
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What are hereditary mutations?
What are hereditary mutations?
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What are acquired mutations?
What are acquired mutations?
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What is Single-gene disorder?
What is Single-gene disorder?
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What is Chromosomal disorders?
What is Chromosomal disorders?
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What is Complex disorders?
What is Complex disorders?
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What are genetic tests?
What are genetic tests?
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What is the purpose of genetic tests?
What is the purpose of genetic tests?
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What are physical characteristics examined?
What are physical characteristics examined?
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What measurements during physical examination?
What measurements during physical examination?
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Specialized examinations?
Specialized examinations?
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What can imaging studies see?
What can imaging studies see?
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What is Personal Medical History?
What is Personal Medical History?
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What included Personal Medical History?
What included Personal Medical History?
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What is Family Medical History?
What is Family Medical History?
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Who will ask relatives health conditions?
Who will ask relatives health conditions?
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What does diagnosis for genetic disorders?
What does diagnosis for genetic disorders?
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What is Prenatal diagnosis?
What is Prenatal diagnosis?
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What is Huntington's Disease (HD)?
What is Huntington's Disease (HD)?
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How develop the 'Huntington's Disease (HD)'?
How develop the 'Huntington's Disease (HD)'?
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What are the aims of Treatment of 'Huntington's Disease (HD)'?
What are the aims of Treatment of 'Huntington's Disease (HD)'?
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What causes Down syndrome?
What causes Down syndrome?
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What is Trisomy 21?
What is Trisomy 21?
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Mosiac Down Syndrome
Mosiac Down Syndrome
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Translocation Down Syndrome
Translocation Down Syndrome
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What is the Duchenne Muscular Dystrophy?
What is the Duchenne Muscular Dystrophy?
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How fatigue and wheaks when affected Duchenne Muscular Dystrophy (DMD)?
How fatigue and wheaks when affected Duchenne Muscular Dystrophy (DMD)?
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Which symptoms will happened when person has the Duchenne Muscular Dystrophy?
Which symptoms will happened when person has the Duchenne Muscular Dystrophy?
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What are the treatment options?
What are the treatment options?
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What is gen therapy?
What is gen therapy?
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Study Notes
Genetic Disorders
- Genetic diseases occur when a person has one or more abnormal, missing, extra, inactivated, or overly active genes, leading to a medical condition.
Understanding Genetic Disorders
- Genes serve as the building blocks of heredity and are passed from parent to child.
- Genes reside within cells of all organisms, present in a large molecule called deoxyribonucleic acid (DNA).
- DNA holds instructions for making proteins.
- DNA comprises different combinations of four nucleic acids: adenine, thymine, cytosine, and guanine, arranged in varying lengths.
- Proteins perform most of the work within cells.
- Proteins transport molecules, build structures, break down toxins, and perform maintenance tasks.
- Human cells typically contain 23 pairs of chromosomes.
- In each pair of chromosomes, one comes from the father and the other from the mother.
- Mutation, or change, can occur in a gene or genes.
- Mutation alters a gene's instructions for making a protein, which causes the protein to malfunction or become entirely absent.
- A medical condition may arise due to this.
- A person can inherit a gene mutation from one or both parents.
Heredity of Genetic Disorders
- A person's DNA exists within two sets of chromosomes, with each parent contributing one set of 23 chromosomes, totaling 23 pairs of chromosomes.
- X and Y chromosomes, known as sex chromosomes, differentiate males from females.
- Females possess a pair of X chromosomes, while males possess one X and one Y chromosome.
- Genetic conditions can arise from mutations in sex chromosomes, affecting males and females differently.
- Individuals with only one copy of a mutated gene typically do not experience disease symptoms but are termed "carriers," capable of passing the trait to their offspring.
- Genetic conditions are commonly inherited, transmitted from parents to children.
- Some genetic disorders stem from mutations occurring during the development of the egg, sperm, or embryo, even without a family history of the disorder.
Gene Mutation and Types
- A gene mutation signifies a permanent alteration in the DNA sequence constituting a gene.
- Types of gene mutations:
- Acquired mutations: Occur during a person's lifetime and are present only in specific cells, not throughout the body.
- Hereditary mutations: Inherited from a parent and are present throughout a person's life in virtually every cell in the body.
Hereditary Mutation
- Hereditary mutations are inherited from a parent and are in virtually every cell
- Also known as Germ line mutations they are in the parents egg and sperm cells
- The fertilized cell after union of the sperm and egg receive DNA from both parents
- If the DNA has a mutation, the growing child will have the mutation in each of their cells
Acquired Mutation
- Acquired mutations occur sometime during a persons life
- They are only present in certain cells
- Environmental factors like UV radiation can cause them
- They can also occur if a mistake is made during DNA copying in cell division
- Acquired mutations in Somatic cells (not sperm & egg) cannot be passed on to the next generation.
Types of Genetic Disorders
- Single-gene disorders: Mutation affects one gene; Sickle cell anemia is an example.
- Chromosomal disorders: Chromosomes (or parts of chromosomes) are missing or changed.
- Chromosomes hold our genes.
- Down syndrome is a chromosomal disorder.
- Complex disorders: Mutations in two or more genes.
- Lifestyle and environment play a role; Colon cancer is an example.
Diagnosing Genetic Disorders
- Genetic tests involve blood and tissue analysis to detect genetic disorders.
- Purposes of these tests
- Finding genetic diseases in unborn babies
- Determining if individuals carry a disease gene that can be passed to children
- Screening embryos for disease
- Testing adults for genetic diseases before symptoms manifest
- Diagnosing individuals with disease symptoms
- Determining the optimal medicine type and dosage for a patient
Physical Examination
- Distinctive facial features sometimes indicate a diagnosis of a genetic disorder.
- Geneticists conduct thorough physical examinations, measuring head circumference, distance between eyes, and length of arms and legs.
- Specialized examinations, such as neurological or ophthalmologic exams, may be performed.
- Imaging studies (X-rays, CT scans, MRI) visualize internal body structures.
Personal Medical History
- An individual's health information, traced back to birth, gives indications on a genetic diagnosis.
- Medical history encompasses past health problems, hospitalizations, surgeries, allergies, medications, and prior medical or genetic testing results.
Family Medical History
- Genetic conditions often run in families, making family health information a critical diagnostic tool.
- Doctors or genetic counselors inquire about health conditions in parents, siblings, children, and extended relatives.
- This gives information about the diagnosis and inheritance pattern of genetic conditions.
Labratory Tests
- Genetic testing can be molecular, chromosomal, and biochemical - allowing the diagnosis of disorders.
- Other lab tests can assess the levels of certain substances in blood and urine, suggesting diagnosis.
Prenatal Diagnosis
- Prenatal diagnosis can detect fetal abnormalities via ultrasound or testing for characteristic substances through invasive procedures like amniocentesis, which involves inserting probes or needles into the uterus.
Huntington's Disease (HD)
- HD involves degeneration of nerve cells in brain and central nervous system.
- It is an autosomal dominant hereditary condition, with a 50% chance of children developing and passing it on if a parent has it.
- Treatment aims to limit the course of the disease, typically showing itself between ages 30-40, with rare forms beginning in childhood.
- Symptoms include uncontrolled movement (chorea), difficulty swallowing, behavioral changes, balance difficulty, and memory, speech, and cognitive loss.
Down Syndrome
- Characterized as a common chromosomal abnormality where an extra copy of genes occur on chromosome 21.
- Occurs in approximately 1 in 1000 newborns, particularly in older expectant mothers.
- Although pre-natal testing can detect it, the babies affected typically show symptoms at birth.
- Decreased muscle tone in the face, developmental delays, and heart and digestive system defects
Down Syndrome - Etiology
- Trisomy 21: The child possesses three copies of chromosome 21 in all cells due to abnormal cell division during sperm or egg cell development.
- Mosaic Down Syndrome: Children have a mix of normal and abnormal cells (extra copy of chromosome 21) because of abnormal cell division after fertilization.
- Translocation Down Syndrome: Part of chromosome 21 attaches (translocates) onto another chromosome before or at conception. These children have the usual two copies of chromosome 21 plus additional material from the translocated chromosome.
Duchenne Muscular Dystrophy
- Symptoms of Duchenne Muscular Dystrophy show before age six.
- The condition causes fatigue, muscle weakness (starts in legs), progresses to the upper body causing wheelchair use by age 12.
- Mostly affects boys
- Symptoms are heart and respiratory difficulties, chest/deformity and mental retardation.
Treatment
- Most treatment options address symptoms to improve patient quality of life.
- Gene therapy introduces a healthy gene to a patient and alleviates defects caused by a faulty gene.
- Gene therapy has issues delivering genes to the appropriate organ or tissue.
Prognosis
- Not all genetic disorders are fatal
- No known cures for genetic diorders exist
- Genetic disorders like Down syndrome affect stages of development.
- Other genetic diorders like muscular dystrophy result in purely physical symptoms
- Some disorders, such as Huntington's Disease, show no signs until adulthood
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