Genetics and Genomics Basics
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Questions and Answers

Which of the following genetic disorders is characterized by hyperflexible joints?

  • Down Syndrome
  • Huntington Disease
  • Sickle Cell Disease
  • Fragile X Syndrome (correct)

    • What is the primary method used to visually represent genetic inheritance?

  • Punnett Square (correct)
  • Karyotype analysis
  • DNA sequencing
  • Pedigree chart

    • Which of the following is NOT a key component of understanding genetic disorders?

  • Protein synthesis
  • DNA replication
  • Immune system function (correct)
  • Gene mutations

    • Which genetic disorder primarily affects red blood cells?

    <p>Sickle Cell Disease (B)</p> Signup and view all the answers

    What is the primary type of inheritance pattern associated with Fragile X Syndrome?

    <p>X-linked recessive (C)</p> Signup and view all the answers

    What is the pattern of inheritance for Huntington Disease?

    <p>Autosomal Dominant (C)</p> Signup and view all the answers

    What is the genetic defect responsible for Huntington Disease?

    <p>An insertion of a trinucleotide repeat in the Huntington gene on chromosome 4 (A)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of Huntington Disease?

    <p>Early onset, typically occurring in childhood (B)</p> Signup and view all the answers

    What is the name of the abnormal, toxic protein produced in Huntington Disease?

    <p>Huntington protein (B)</p> Signup and view all the answers

    What is the typical age of onset for Huntington Disease?

    <p>Mid-life (C)</p> Signup and view all the answers

    What is the probability of a child inheriting Huntington Disease if one parent has the disorder?

    <p>50% (A)</p> Signup and view all the answers

    What is the most significant clinical manifestation of Huntington Disease?

    <p>Involuntary movements (A)</p> Signup and view all the answers

    Which of the following brain structures are primarily affected in Huntington Disease?

    <p>Basal ganglia (D)</p> Signup and view all the answers

    What is the primary function of chromosomes within a cell?

    <p>Chromosomes are responsible for storing and transmitting genetic information. (A)</p> Signup and view all the answers

    During mitosis, how many identical cells are produced from a single parent cell?

    <p>Two (A)</p> Signup and view all the answers

    What is the difference between autosomes and sex chromosomes?

    <p>Autosomes carry genes for general traits, while sex chromosomes determine gender. (B)</p> Signup and view all the answers

    In the context of Mendelian inheritance, what is an allele?

    <p>A variation of a gene. (B)</p> Signup and view all the answers

    What is the difference between an autosomal dominant and an autosomal recessive trait?

    <p>Dominant traits are always expressed, even if only one copy of the mutated allele is present, while recessive traits require two copies. (C)</p> Signup and view all the answers

    How does an autosomal recessive inheritance pattern differ from sex-linked recessive inheritance?

    <p>Autosomal recessive traits are more likely to be expressed in females, while sex-linked recessive traits are more likely to be expressed in males. (A)</p> Signup and view all the answers

    What is a 'carrier' in the context of genetic inheritance?

    <p>An individual who has a mutated gene but does not show symptoms of the associated disease. (C)</p> Signup and view all the answers

    What is the purpose of meiosis?

    <p>To produce gametes (sperm or egg cells) with half the number of chromosomes as the parent cell. (A)</p> Signup and view all the answers

    Why is it important for nurses to understand genetic inheritance?

    <p>All of the above. (D)</p> Signup and view all the answers

    What is the significance of genetic alterations in human diseases?

    <p>All of the above. (D)</p> Signup and view all the answers

    Which of the following is NOT a common assessment finding for Sickle Cell Disease?

    <p>Mental delay (D)</p> Signup and view all the answers

    What genetic alteration is primarily responsible for Down Syndrome?

    <p>Trisomy of chromosome 21 (D)</p> Signup and view all the answers

    Which of the following factors is associated with an increased incidence of Down Syndrome?

    <p>Maternal age (C)</p> Signup and view all the answers

    Which of these statements accurately describes a cause of Sickle Cell Disease?

    <p>Mutation in hemoglobin structure (C)</p> Signup and view all the answers

    What mechanism typically leads to the genetic change associated with Down Syndrome?

    <p>Nondisjunction (D)</p> Signup and view all the answers

    Which of the following is NOT a recognized risk factor for Down Syndrome?

    <p>Environmental factors (D)</p> Signup and view all the answers

    Which assessment finding is related to chronic issues in Sickle Cell Disease?

    <p>Organ damage (A)</p> Signup and view all the answers

    Which of the following physical features is NOT commonly associated with Fragile X Syndrome?

    <p>Very large ears (C)</p> Signup and view all the answers

    What is the primary screening method for identifying Down Syndrome during pregnancy?

    <p>Serum marker screening (B)</p> Signup and view all the answers

    What is a common cognitive impairment associated with Fragile X Syndrome?

    <p>Significant cognitive impairment (A)</p> Signup and view all the answers

    What type of genetic disorder is Fragile X Syndrome classified as?

    <p>Sex-linked genetic disorder (C)</p> Signup and view all the answers

    Which gene is primarily implicated in Fragile X Syndrome?

    <p>FMR1 (C)</p> Signup and view all the answers

    Which of the following describes a behavioral difficulty related to Fragile X Syndrome?

    <p>Severe anxiety and hyperactivity (A)</p> Signup and view all the answers

    Which physiological feature is NOT typically decreased in individuals with Fragile X Syndrome?

    <p>Height growth rate (C)</p> Signup and view all the answers

    Which feature characterizes the facial appearance of an individual with Fragile X Syndrome?

    <p>Prominent chin (C)</p> Signup and view all the answers

    What kind of mutation is associated with Fragile X Syndrome?

    <p>Unusual mutation in the FMR1 gene (D)</p> Signup and view all the answers

    What type of inheritance is associated with sickle cell disease?

    <p>Autosomal recessive inheritance (C)</p> Signup and view all the answers

    Which of the following describes the phenotype for a homozygous individual with sickle cell disease?

    <p>They exhibit the disease phenotype (D)</p> Signup and view all the answers

    What is the main cause of the sickling of red blood cells in sickle cell disease?

    <p>Point mutation in the hemoglobin gene (D)</p> Signup and view all the answers

    Which ancestry group is particularly at higher risk for sickle cell disease?

    <p>Ancestry from sub-Saharan Africa (D)</p> Signup and view all the answers

    What term is used to describe the altered form of hemoglobin associated with sickle cell disease?

    <p>Hemoglobin S (A)</p> Signup and view all the answers

    How does sickle cell disease primarily affect the shape of red blood cells?

    <p>It causes them to become sickle-shaped (C)</p> Signup and view all the answers

    In the context of sickle cell disease, what does the term 'heterozygous' refer to?

    <p>An individual with one normal allele and one sickle cell allele (A)</p> Signup and view all the answers

    What is a common health effect experienced by individuals with sickle cell disease?

    <p>Increased risk of bacterial infections (B)</p> Signup and view all the answers

    Flashcards

    Huntington Disease

    A progressive neurological disorder with an autosomal dominant inheritance pattern.

    Autosomal Dominant

    A type of inheritance where one copy of a mutated gene can cause the disorder.

    CAG Repeats

    Excessive repetitions of the CAG sequence in the Huntington gene on chromosome 4.

    Basal Ganglia Degeneration

    Decline of the basal ganglia areas in the brain associated with movement control.

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    Chorea

    Irregular, rapid, and unintentional movement caused by Huntington's Disease.

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    Dyskinesia

    Involuntary muscle movements that can occur in patients with Huntington's Disease.

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    Mid-Life Onset

    Symptoms of Huntington Disease typically appear in middle adulthood, around ages 30-50.

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    Neurological Symptoms

    Manifestations include movement, emotional, and cognitive impairments due to brain degeneration.

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    Hyperflexible Joints

    Joints that can move beyond the normal range of motion.

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    Protein Synthesis

    The process where cells make proteins based on genetic instructions.

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    Punnett Square

    A grid used to predict the genetic outcomes of a cross.

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    Sickle Cell Disease

    A genetic blood disorder causing red blood cells to become misshaped.

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    Fragile X Syndrome

    A sex-linked genetic disorder more common in males, caused by mutations in the FMR1 gene.

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    FMR1 gene

    The gene responsible for Fragile X Syndrome, which is critical for brain development.

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    Cognitive impairment

    A common result of Fragile X Syndrome, affecting thinking and learning abilities.

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    Behavioral difficulties

    Challenges in behavior commonly associated with Fragile X Syndrome, such as anxiety or aggression.

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    Upward slanting eyes

    One of the facial features associated with Fragile X Syndrome.

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    Protruding jaw

    A characteristic facial feature of individuals with Fragile X Syndrome where the lower jaw extends forward.

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    Decreased muscle tone

    A symptom of Fragile X Syndrome where muscles are less toned and can appear loose.

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    Short stature

    A common physical trait in individuals with Fragile X Syndrome, indicating shorter height than peers.

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    Anemia

    A condition where you lack enough healthy red blood cells, causing fatigue and weakness.

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    Organ Damage

    Harm to organs due to restricted blood flow from sickle-shaped cells.

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    Jaundice

    Yellowish skin or eyes caused by excess bilirubin, often due to hemolysis of red blood cells.

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    Down Syndrome

    A genetic disorder caused by an extra copy of chromosome 21, leading to developmental delays.

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    Trisomy 21

    A genetic condition where individuals have three copies of chromosome 21 instead of two.

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    Maternal Age Risk

    The likelihood of chromosomal abnormalities increases with the mother’s age.

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    Nondisjunction

    The failure of chromosome pairs to separate properly during cell division, leading to genetic disorders.

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    Emotional Disturbance

    A condition affecting emotional stability and behavior.

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    Autosomal Recessive Inheritance

    A pattern where two copies of a mutated gene are necessary to express the disorder.

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    Homozygous

    Having two identical alleles for a specific gene.

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    Heterozygous

    Having one dominant and one recessive allele for a specific gene.

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    Point Mutation

    A change in a single nucleotide in DNA, affecting gene function.

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    Hemoglobin S (HbS)

    An abnormal form of hemoglobin found in sickle cell disease.

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    Chromosomal Replication

    The process by which DNA in a cell duplicates before cell division.

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    Mitosis

    A type of cell division that results in two identical cells with 23 pairs of chromosomes.

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    Meiosis

    A type of cell division that produces four non-identical cells with 23 single chromosomes each.

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    Autosomes

    Chromosomes that do not determine the sex of an individual; humans have 22 pairs of autosomes.

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    Sex Chromosomes

    Chromosomes that determine the sex of an individual; humans have 1 pair, XX or XY.

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    Mendelian Inheritance

    A pattern of inheritance that follows predictable traits based on dominant and recessive alleles.

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    Dominant Allele

    An allele that expresses its trait even when only one copy is present.

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    Recessive Allele

    An allele that expresses its trait only when two copies are present.

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    Sex-Linked Traits

    Traits whose genes are located on sex chromosomes, often affecting males more frequently.

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    Carrier Status

    An individual who has one copy of a recessive allele, not expressing it, but can pass it on.

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    Study Notes

    Module Objectives

    • Students will be able to define genetic and genomic terms like genotype and phenotype.
    • Students will be able to describe the basic structure of DNA and genes.
    • Students will be able to identify the implications of alterations in gene and chromosome structure and function.
    • Students will be able to use Punnett Squares to understand inheritance patterns.
    • Students will be able to discuss the influence of gene-environment interactions on developmental disorders and future gene development.
    • Students will be able to apply concepts of genetic and developmental alterations to clinical examples.

    Genetic System Components

    • Nucleotide: The basic building block of DNA and RNA.
    • DNA: Deoxyribonucleic acid, a double-helix structure.
    • Gene: A segment of DNA that codes for a specific protein.
    • Chromosome: A structure composed of DNA and proteins that carries genes.
    • Nitrogenous bases: Adenine (A), Thymine (T), Guanine (G), Cytosine (C), and Uracil (U).
    • Base pairing: A with T (or U), and G with C.

    Genetic System Components: Nucleotide Pairing

    • Adenine pairs with Thymine (A-T).
    • Guanine pairs with Cytosine (G-C).
    • Uracil replaces thymine in RNA (A-U).

    Genetic Code Production

    • DNA is transcribed into mRNA.
    • mRNA travels to the cytoplasm and is translated into a protein.
    • Replication: DNA to DNA.
    • Transcription: DNA to RNA.
    • Translation: RNA to Protein.
    • Process is crucial for building and maintaining the human body.

    Chromosomal Replication

    • Double-stranded DNA in the cell nucleus.
    • 22 pairs of autosomes and 1 pair of sex chromosomes.
    • Contains genetic information of an individual.
    • Mitosis produces 2 identical cells.
    • Meiosis produces 4 cells with 23 single chromosomes.

    Genetic Mutations

    • Deletion: Loss of a segment of DNA.
    • Duplication: Extra copy of a segment of DNA.
    • Inversion: Rearrangement of a segment of DNA.
    • Insertion: Addition of a segment of DNA.
    • Translocation: Movement of a segment from one chromosome to another.

    Gene Inheritance Patterns

    • Mendelian inheritance: Predictable trait transmission.
    • Autosomal dominant: Mutation on one allele results in trait expression.
    • Autosomal recessive: Mutation on both alleles results in trait expression.
    • Sex-linked: Mutations located on sex chromosomes, typically the X chromosome.

    Inheritance of Polygenic Disorders

    • Multiple alleles at various chromosomal locations affect phenotypes.
    • Complex interactions of multiple factors, including environmental influences.
    • Less predictable patterns compared to single-gene disorders.
    • Includes chromosomal alterations such as monosomy (Turner syndrome) and trisomy (Down syndrome).

    Application to Clinical Exemplars

    • Disorders like Huntington's disease, Sickle cell disease, Down syndrome, and Fragile X syndrome.

    What should I know about each disorder?

    • Etiology (cause), Inheritance patterns, Morphological changes (structural), Functional consequences (clinical).

    Autosomal Dominant Genetic Disorder (Huntington's Disease)

    • Progressive neurologic disorder with an autosomal dominant pattern.
    • 50% chance of passing to children.
    • Mid-life onset.
    • Equally affects men and women.
    • Pathophysiology involves a CAG repeat expansion on the HTT gene leading to Huntington protein formation and dysfunction, causing neuronal degeneration.
    • Causes movement, emotional, and cognitive impairment.

    Autosomal Recessive Genetic Disorder (Sickle Cell Disease)

    • Single gene mutation involving autosomal recessive inheritance.
    • Homozygous condition: disease phenotype.
    • Heterozygous condition: carrier.
    • Point mutation affecting the beta-globin gene causing altered hemoglobin, resulting in sickle-shaped red blood cells.
    • Common in populations with sub-Saharan African, Central/South American, and Mediterranean ancestry.
    • Symptoms include anemia, pain, organ damage, and jaundice.

    Alteration in Autosomal Chromosome Number (Down Syndrome)

    • Alteration in autosome number.
    • No clear risk factors, but maternal age increases incidence.
    • Can be screened during pregnancy.
    • Pathophysiology: Trisomy 21 — 3 copies of chromosome 21 due to nondisjunction.
    • Characteristics include mental delay, facial features (upward-slanting eyes, short neck), short stature, and decreased muscle tone.

    Sex-Linked Genetic Disorder (Fragile X Syndrome)

    • Sex-linked genetic disorder more prevalent in males.
    • Pathophysiology: Unusual mutation in the fragile X mental retardation 1 (FMR1) gene resulting in reduced or absent fragile X mental retardation protein (FMRP).
    • Characteristics include cognitive impairment, behavioral difficulties, facial features (protruding jaw, large head), and hyperflexible joints.

    Summary

    • Topics covered include genetic basics, DNA production/protein synthesis, inheritance patterns (Punnett Square), and specific examples (Huntington's, Sickle cell, Down, Fragile X syndromes).

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    Genetic and Developmental Disorders PDF

    Description

    This quiz tests your understanding of fundamental genetic concepts, including the definitions of genotype and phenotype, DNA structure, gene function, and inheritance patterns using Punnett Squares. Additionally, it explores the implications of genetic alterations and gene-environment interactions related to developmental disorders.

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