Inheritance of Sex-Linked Dominant Traits Quiz
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Questions and Answers

What is the term used to describe the disturbances of red and green color vision caused by abnormal visual dyes?

  • Daltonism (correct)
  • Deuteranomaly
  • Protanomaly
  • Ishihara

    • What is a Y-body?

  • A highly fluorescent body in the interphase cell nucleus (correct)
  • A part of the X chromosome
  • A structure specific to female cells
  • An organelle found in the cytoplasm of cells

    • In North European populations, which type of color vision disturbance is 4-5 times more common than protanopia?

  • Deuteranopia
  • Protanomaly
  • Deuteranomaly (correct)
  • Protanopia

    • How many Y bodies are typically found in male cells?

    <p>Equal to the number of Y chromosomes</p> Signup and view all the answers

    What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?

    <p>Correctvision</p> Signup and view all the answers

    What is the term for the genetic cross between a daughter with protanomaly and a son seeing correctly with deuteranomaly?

    <p>XP1Y</p> Signup and view all the answers

    What is Lyonisation?

    <p>Inactivation process of one of the X chromosomes</p> Signup and view all the answers

    How is lyonisation described?

    <p>Independent, random, indivertible</p> Signup and view all the answers

    What are Ishihara pseudoisochromatic tables used to check?

    <p>Color vision ability</p> Signup and view all the answers

    In the Ishihara full test, how many tables are there typically?

    <p>36</p> Signup and view all the answers

    When does lyonisation occur in female embryonic cells?

    <p>Around 16 days of embryonic life</p> Signup and view all the answers

    'Deuteranomaly' affects approximately what percentage of men in North European populations?

    <p>~4-5%</p> Signup and view all the answers

    What is the purpose of lyonisation?

    <p>To balance the gene expression from X chromosomes in XX and XY individuals</p> Signup and view all the answers

    Which cells exhibit Y-drummer's sticks?

    <p>Neutrophils</p> Signup and view all the answers

    'Protanopia' affects approximately what percentage of women in North European populations?

    <p>~0.5%</p> Signup and view all the answers

    What happens to genes located in the pseudoautosomal region during lyonisation?

    <p>They are not inactivated</p> Signup and view all the answers

    What is the most common type of mutation detected in Haemophilia B?

    <p>Missense mutations</p> Signup and view all the answers

    Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?

    <p>Splicing mutations</p> Signup and view all the answers

    What level of factor VIII or IX in plasma is associated with the mild form of haemophilia?

    <p>0.05-0.40 IU/ml (5-40% norm)</p> Signup and view all the answers

    Which type of bleeding is characteristic of severe haemophilia?

    <p>Prolonged bleeding after minor injuries</p> Signup and view all the answers

    What dominates over the deuteranomaly allele Xd1 in terms of colour vision?

    <p>X-norm allele</p> Signup and view all the answers

    How are women affected when they possess an abnormal colour vision gene on each X chromosome?

    <p>They see correctly</p> Signup and view all the answers

    In Haemophilia B, what percentage of all mutations are characterized as gene rearrangements?

    <p>&lt;1%</p> Signup and view all the answers

    Which clinical form of haemophilia exhibits severe bleeding as a result of injuries and micro-trauma?

    <p>Severe</p> Signup and view all the answers

    What is the inheritance pattern when a female carrier and a healthy man have children?

    <p>50% of sons will be sick and 50% healthy; 50% of daughters will be carriers and 50% healthy</p> Signup and view all the answers

    What happens when an ill man (hemizygous) has children?

    <p>He does not pass the disease to sons, but all daughters will be carriers</p> Signup and view all the answers

    What is the phenotype of hemizygous men and heterozygous women with a mutated gene?

    <p>Both get ill</p> Signup and view all the answers

    What is the likelihood that sick women (heterozygotes) pass the mutant gene to both daughters and sons?

    <p>50% probability to both daughters and son</p> Signup and view all the answers

    What is the effect of the mutant dominant gene in men?

    <p>It is often lethal</p> Signup and view all the answers

    What is the phenotype of XAXA genotype in women?

    <p>Ill, most common lethal genotype</p> Signup and view all the answers

    In the inheritance of sex-linked dominant traits, what is the phenotype of XAY genotype in men?

    <p>Ill, often a lethal feature</p> Signup and view all the answers

    What is the genotype and phenotype of XaXa individuals?

    <p>'Invisible' carrier</p> Signup and view all the answers

    What is a useful feature of fruit flies in genetic studies?

    <p>The presence of polytene chromosomes in salivary gland cells</p> Signup and view all the answers

    How is the human karyotype classified?

    <p>23 pairs of chromosomes, 22 autosomes, and 1 heterosome</p> Signup and view all the answers

    According to the classical division, which group do chromosomes 1-3 belong to?

    <p>Group B - Large submetacentric</p> Signup and view all the answers

    In human karyotyping, how are autosomes arranged following the rules?

    <p>By size, followed by sex chromosomes X and Y</p> Signup and view all the answers

    Which feature of chromosomes is used for their classification into groups A to G?

    <p>Length and centromere position</p> Signup and view all the answers

    What system describes the rules for recording cytogenetic test results?

    <p>ISCN (The International System for Human Cytogenetic Nomenclature)</p> Signup and view all the answers

    How are chromosomes stained in human karyotyping using Giemsa reagent?

    <p><strong>G-bands</strong> are used for staining</p> Signup and view all the answers

    What is the term used to describe the giant chromosomes in fruit fly salivary gland cells?

    <p><strong>Polytene</strong> chromosomes</p> Signup and view all the answers

    What type of inheritance is described as the transmission of traits from father to son?

    <p>Holandric inheritance</p> Signup and view all the answers

    In the inheritance of recessive sex-linked traits, what is the phenotype of individuals with the genotype XAXa?

    <p>Clinically healthy, carrier</p> Signup and view all the answers

    In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to daughters and sons?

    <p>50% to both daughters and sons</p> Signup and view all the answers

    What term describes individuals who have only one X chromosome and one copy of each gene linked to the X chromosome?

    <p>Hemizygous</p> Signup and view all the answers

    In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype XAY?

    <p>Healthy</p> Signup and view all the answers

    What is the genotype of Illman?

    <p>XAY XaXa</p> Signup and view all the answers

    What is the term for individuals with only one copy of a particular gene on the sex chromosomes?

    <p>Hemizygous</p> Signup and view all the answers

    What is the genotype of Healthywoman?

    <p>XAY XaXa</p> Signup and view all the answers

    In the inheritance of sex-linked dominant traits, what is the expected phenotype of a female with the genotype XDXd1?

    <p>Expresses the trait</p> Signup and view all the answers

    When an Illwoman and Healthyman have offspring, what percentage of sons will be ill?

    <p>0%</p> Signup and view all the answers

    When a woman who is a carrier for a recessive sex-linked trait has a son, what is the probability that the son will inherit the mutated gene?

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

    What is the genotype of a female carrier of the mutated gene for hemophilia B?

    <p>XAXa</p> Signup and view all the answers

    For individuals with hemophilia B, what type of mutation accounts for approximately 11% of all identified mutations?

    <p>Splicing mutations</p> Signup and view all the answers

    When a hemizygous man with haemophilia A has children with an Illwoman, what percentage of daughters are expected to be healthy carriers?

    <p>~50%</p> Signup and view all the answers

    If a woman carries an abnormal color vision gene on each of her X chromosomes, what is her visual perception like?

    <p>Normal color vision</p> Signup and view all the answers

    What is the inheritance pattern when an ill man (hemizygous) has daughters?

    <p>They will be healthy carriers</p> Signup and view all the answers

    In the inheritance of sex-linked recessive traits, what is the phenotype of XaXa genotype in women?

    <p>Healthy</p> Signup and view all the answers

    What is the phenotype of hemizygous men and heterozygous women with a mutated gene?

    <p>Sick</p> Signup and view all the answers

    When a sick woman (heterozygote) passes the mutant gene, what is the likelihood that her sons will inherit it?

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

    What happens to genes located in the pseudoautosomal region during lyonization in female embryonic cells?

    <p>They are silenced</p> Signup and view all the answers

    In North European populations, which type of color vision disturbance is about 4-5 times more common than protanopia, protanomaly, and deuteranopia?

    <p>Deuteranomaly</p> Signup and view all the answers

    Which term is used to describe the disturbances of red and green color vision caused by the abnormal amount of visual dyes?

    <p>Daltonism</p> Signup and view all the answers

    What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?

    <p>Hemizygous</p> Signup and view all the answers

    When a female carrier and a healthy man have children, what is the inheritance pattern observed for the mutated gene?

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

    What is the term used to describe the genetic cross between a daughter with protanomaly and a son who sees correctly with deuteranomaly?

    <p>Protandutic cross</p> Signup and view all the answers

    What is the term for individuals who possess only one copy of a recessive gene on the X chromosome?

    <p>Hemizygous individuals</p> Signup and view all the answers

    In the inheritance of sex-linked recessive traits, what is the phenotype of females who are carriers of the mutated gene?

    <p>Normal phenotype</p> Signup and view all the answers

    When a female carrier and a healthy man have children, what is the likelihood that their sons will inherit the mutated gene?

    <p>25%</p> Signup and view all the answers

    What is the term used to describe individuals who carry a gene for a certain trait but do not express the trait themselves?

    <p>Silent carriers</p> Signup and view all the answers

    In sex-linked dominant trait inheritance, how are females affected when they possess an abnormal gene on one X chromosome?

    <p>They exhibit the trait mildly</p> Signup and view all the answers

    What is the term for the graphical set of chromosomes typical for a given individual or species?

    <p>Karyotype</p> Signup and view all the answers

    In the inheritance of sex-linked recessive traits, what is the phenotype of individuals with the genotype X^AX^a?

    <p>Hemophilia</p> Signup and view all the answers

    When an ill man (hemizygous) has children, what is the likelihood that his daughters will be carriers of the mutated gene?

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

    In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype X^AY?

    <p>Hemophilia</p> Signup and view all the answers

    For female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their sons?

    <p>~25%</p> Signup and view all the answers

    What is the term for a person who carries the gene for a type of color vision anomaly but can see correctly?

    <p>'Carrier' individual</p> Signup and view all the answers

    In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their daughters?

    <p>~50%</p> Signup and view all the answers

    Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?

    <p>Gene rearrangements</p> Signup and view all the answers

    'Protanopia' generally affects what percentage of women in North European populations?

    <p>~0.5%</p> Signup and view all the answers

    'Deuteranomaly' typically affects what percentage of men in North European populations?

    <p>~4-5%</p> Signup and view all the answers

    Study Notes

    Genetic Studies of Fruit Flies

    • Fruit flies are useful in genetic studies due to:
      • Presence of polytene (giant) chromosomes in salivary gland cells
      • High frequency of gene mutations affecting various morphological features

    Human Karyotype

    • Human karyotype consists of 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes (heterosomes)
    • X and Y chromosomes are classified as sex chromosomes
    • Sex chromosomes are arranged at the end of the karyotype, following the size and centromere position

    Chromosome Classification

    • Chromosomes are classified into seven groups (A to G) based on:
      • Length
      • Centromere position
    • Table 1 shows the classical division of human chromosomes

    Chromatin Y

    • Chromatin Y (Y-body) is a condensed, heterochromatic part of the long arms of Yq12
    • Visualized by the fluorescent method in the interphase cell nucleus
    • Number of Y bodies is equal to the number of Y chromosomes
    • Found in 30-50% of studied male cells, including sperm, lymphocytes, and oral epithelial cells

    Lyonisation

    • Lyonisation is the process of inactivation of one X chromosome in female cells
    • Inactivation is:
      • Independent
      • Random
      • Irreversible
    • Compensatory mechanism to balance the level of gene expression on sex chromosomes

    Inheritance of Sex-Linked Traits

    • Inheritance patterns of sex-linked traits:
      • Hemizygous men and heterozygous women both get ill
      • Heterozygous women with a mutated gene usually have a mild form of disease
      • Hemizygous men do not pass the disease to their sons, but all daughters will be carriers
      • Sick women (heterozygotes) pass the mutant gene to both daughters and sons with 50% probability

    Haemophilia

    • Haemophilia A and B are recessive sex-linked diseases
    • Caused by mutations in the genes F8C and F9, respectively
    • Frequency of occurrence:
      • Haemophilia A: 1:10,000 to 1:20,000 births
      • Haemophilia B: 1:30,000 births
    • Clinically, Haemophilia A and B do not differ from each other, symptoms appear in early childhood

    Colour Vision

    • Colour vision disturbances are caused by point mutations within the deutan gene
    • In North European populations, red and green colour vision disturbances affect:
      • About 8% of men
      • About 0.5% of women
    • Deuteranomaly is 4-5 times more common than protanopia, protanomaly, and deuteranopia

    FISH Technique

    • FISH (Fluorescence In Situ Hybridization) is a cytogenetic technique to detect a specific DNA sequence in genetic material
    • Uses fluorescent DNA probes to identify specific DNA sequences
    • Applications:
      • Identification of additional genetic material (marker chromosomes)
      • Evaluation of structural aberrations
      • Detection of submicroscopic aberrations
      • Rapid detection of aneuploidy/polyploidy in pre- and postnatal diagnosis

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    Test your knowledge on the inheritance patterns of sex-linked dominant traits, including scenarios involving female carriers and ill men. Learn about the different outcomes for sons and daughters based on the genetic makeup of the parents.

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