Genetic Basis of Disease: Module 6 Lecture
29 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is karyotyping defined as?

  • The study of chromosomes (correct)
  • The study of genes
  • The study of genetic disorders
  • The study of DNA
  • What is the conventional notation for a male karyotype?

  • 46,XX
  • 46,XY (correct)
  • 46,Y
  • 46,X
  • What is the purpose of FISH (Fluorescent In-Situ Hybridization)?

  • To identify subtle microdeletions and complex translocations (correct)
  • To analyze the sequence of DNA
  • To study the structure of genes
  • To analyze the number of chromosomes
  • What is the most common cause of mental retardation?

    <p>Trisomy-21</p> Signup and view all the answers

    What is the chromosomal abnormality associated with Klinefelter syndrome?

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

    What is the risk associated with Trisomy-21?

    <p>All of the above</p> Signup and view all the answers

    What is the characteristic of the skin in Ehlers-Danlos Syndromes?

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

    What is the primary consequence of the LDL receptor defect in Familial Hypercholesterolemia?

    <p>Cholesterol buildup in the blood</p> Signup and view all the answers

    What is the most common category of enzyme deficiencies?

    <p>Lysosomal storage diseases</p> Signup and view all the answers

    What is the consequence of substrate buildup in enzyme deficiencies?

    <p>Product lack and potential harm</p> Signup and view all the answers

    How many different types of Glycogen Storage Diseases are known?

    <p>13</p> Signup and view all the answers

    Which of the following lysosomal storage diseases is characterized by the accumulation of glucocerebroside?

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

    What is the name of the enzyme that is deficient in Niemann-Pick disease?

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

    Which of the following is a characteristic feature of Alcaptonuria?

    <p>Black urine</p> Signup and view all the answers

    What is the term used to describe the inheritance pattern of traits such as height and intelligence?

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

    Which of the following lysosomal storage diseases is characterized by the accumulation of gangliosides?

    <p>Tay-Sachs</p> Signup and view all the answers

    What is the approximate chance of first-degree relatives having a multifactorial disorder?

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

    What type of mutation involves a visible change in the chromosome?

    <p>Chromosome mutation</p> Signup and view all the answers

    What is the result of a deletion or insertion mutation that is not a multiple of three?

    <p>Frameshift mutation</p> Signup and view all the answers

    What type of inheritance pattern is characterized by reduced penetrance and variable expressivity?

    <p>Autosomal dominant</p> Signup and view all the answers

    What is an example of a disease that follows an autosomal dominant inheritance pattern?

    <p>Huntington's Disease</p> Signup and view all the answers

    What is the characteristic of autosomal recessive diseases?

    <p>They often have complete penetrance</p> Signup and view all the answers

    What is an example of a disease that follows an autosomal recessive inheritance pattern?

    <p>Cystic Fibrosis</p> Signup and view all the answers

    What is the cause of substrate accumulation in single gene disorders?

    <p>Enzyme defect</p> Signup and view all the answers

    What is the defect in Marfan Syndrome?

    <p>Fibrillin-1 defect</p> Signup and view all the answers

    Which of the following is an example of a sex-linked disorder?

    <p>Duchenne Muscular Dystrophy</p> Signup and view all the answers

    What is the effect of a G6PD enzyme defect?

    <p>Increases drug susceptibility to Primaquine</p> Signup and view all the answers

    What is the characteristic of heterozygous females in sex-linked disorders?

    <p>They are carriers with no phenotypic expression</p> Signup and view all the answers

    What is the result of a receptor/transport protein defect in Familial Hypercholesterolemia?

    <p>Increased cholesterol levels</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Browser