Autosomal Recessive Inheritance Disorders Quiz
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Questions and Answers

What is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?

  • 25% (correct)
  • 0%
  • 75%
  • 50%
  • Which genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?

  • Tay–Sachs disease
  • Phenylketonuria (correct)
  • Cystic fibrosis
  • Sickle cell disease
  • In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?

  • 50%
  • 0%
  • 75%
  • 25% (correct)
  • What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?

    <p>Increased chance</p> Signup and view all the answers

    Which genetic disorder involves generalized dysfunction of the exocrine glands?

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

    In X-linked dominant inheritance, who will inherit the condition from an affected male?

    <p>All daughters and no sons</p> Signup and view all the answers

    What is the chance of inheriting two abnormal genes in autosomal recessive inheritance?

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

    Which type of genetic disorders are attributed to multifactorial inheritance?

    <p><code>Spina bifida</code></p> Signup and view all the answers

    What is not true about X-linked inherited disorders?

    <p>Females can be either heterozygous or homozygous for any allele.</p> Signup and view all the answers

    What is the specific genetic makeup of an individual usually in the form of DNA?

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

    How many chromosomes do human beings typically have?

    <p>46 pairs</p> Signup and view all the answers

    What do genes control?

    <p>Protein production and rate</p> Signup and view all the answers

    What is a gene that controls eye color an example of?

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

    How many chromosomes do offspring receive from each parent?

    <p>23</p> Signup and view all the answers

    What does a mutation in a gene lead to?

    <p>Abnormal protein production</p> Signup and view all the answers

    What determines the observed, outward characteristics of an individual?

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

    What do patterns of inheritance demonstrate?

    <p>How genetic abnormalities can be passed on to offspring</p> Signup and view all the answers

    What are Mendel’s laws of inheritance named after?

    <p>An Austrian naturalist</p> Signup and view all the answers

    What do monogenic disorders result from?

    <p>Defective single gene</p> Signup and view all the answers

    What is the role of the nucleus within the cell?

    <p>To store genetic information in the form of chromosomes</p> Signup and view all the answers

    What is the function of genes within a chromosome?

    <p>To determine specific characteristics of an organism</p> Signup and view all the answers

    What is the structure of DNA?

    <p>Double helix with alternating sugar and phosphate groups</p> Signup and view all the answers

    What are the building blocks of the side pieces of the DNA double helix?

    <p>Phosphate and deoxyribose sugar</p> Signup and view all the answers

    What is the role of the nitrogenous bases in DNA?

    <p>To form the cross connections in the DNA double helix</p> Signup and view all the answers

    Where is genetic information stored within the cell?

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

    What does DNA encode the instructions for?

    <p>Synthesizing specific proteins needed to maintain life</p> Signup and view all the answers

    What are the working subunits of DNA known as?

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

    What is found within a chromosome?

    <p>Genes and chromosomes</p> Signup and view all the answers

    What are individual units of heredity of all traits?

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

    What is the term for when chromosomal abnormalities do not show up in every cell?

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

    Which type of chromosomal disorder occurs when there is a breakage and loss of a portion of one or more chromosomes?

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

    What is the term for the failure of separation of the chromosome pair during cell division?

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

    Which syndrome involves a missing or extra sex chromosome and may cause infertility and growth abnormalities?

    <p>Turner syndrome</p> Signup and view all the answers

    In which type of chromosomal abnormality does a portion of the chromosome break off at two points and is turned upside down and reattached?

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

    Which type of chromosomal disorder results in having too much or too little genetic material?

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

    What is the term for the abnormal rearrangement that occurs when a portion of one chromosome is transferred to another chromosome?

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

    Which type of chromosomal abnormality involves an entire single chromosome being added?

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

    What causes most chromosomal abnormalities of number to occur?

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

    What is the term used for a pictorial analysis of chromosomes, often used in prenatal testing to diagnose genetic diseases?

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

    Which term refers to the specific genetic makeup of an individual, usually in the form of DNA?

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

    What refers to one of two or more alternative versions of a gene at a given position on a chromosome?

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

    How many chromosomes do human beings typically have?

    <p>46</p> Signup and view all the answers

    What is the term for the observed, outward characteristics of an individual, determined by genotype and environmental variation?

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

    In autosomal dominant inheritance, what happens if a single gene in the heterozygous state is capable of producing the phenotype?

    <p>The mutant gene overshadows the normal gene</p> Signup and view all the answers

    What do genes control in an individual?

    <p>Outward characteristics</p> Signup and view all the answers

    What causes a genetic disorder or familial disorder?

    <p>Both a and c</p> Signup and view all the answers

    $Ww$ stands for which type of characteristic in terms of allele combination?

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

    $ww$ stands for which type of characteristic in terms of allele combination?

    <p>Homozygous recessive</p> Signup and view all the answers

    What is the genetic material found in humans that can replicate itself?

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

    What are the individual units of heredity of all traits and are organized into long segments of DNA?

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

    What do genes encode the instructions for synthesizing?

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

    What are the side pieces of the DNA double helix made up of?

    <p>Deoxyribose and phosphate</p> Signup and view all the answers

    What are the cross connections or rungs of the DNA ladder made up of?

    <p>Nitrogenous bases</p> Signup and view all the answers

    What is the sequence of the base pairs as they form each rung of the DNA ladder referred to as?

    <p>Genetic code</p> Signup and view all the answers

    What is tightly coiled and packaged in units called chromosomes, housed in the cell’s nucleus?

    <p>DNA strands</p> Signup and view all the answers

    What does DNA store?

    <p>Genetic information</p> Signup and view all the answers

    In autosomal recessive inheritance, what is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?

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

    In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?

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

    1.1

    <p>Sugar, deoxyribose</p> Signup and view all the answers

    What is the role of the nitrogenous bases in DNA?

    <p>Attach to the sides and make up the rungs of the ladder</p> Signup and view all the answers

    Which type of genetic disorders are attributed to multifactorial inheritance?

    <p>Congenital malformations</p> Signup and view all the answers

    What are the common types of genetic disorders that follow X-linked recessive inheritance patterns?

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

    What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?

    <p>100%</p> Signup and view all the answers

    What is the role of genes within a chromosome?

    <p>Determine the observed characteristics of an individual</p> Signup and view all the answers

    What are the common types of genetic disorders that follow autosomal recessive inheritance patterns?

    <p>Cystic fibrosis and phenylketonuria</p> Signup and view all the answers

    What is the term for a condition in which males have only one X chromosome, therefore all the genes on their X chromosome will be expressed?

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

    In X-linked dominant inheritance, what is the chance that both male and female offspring of an affected woman will inherit the condition?

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

    Which term refers to when the chromosomal abnormalities do not show up in every cell; only some cells or tissues carry the abnormality?

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

    What type of genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?

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

    What occurs when a portion of one chromosome is transferred to another chromosome and an abnormal rearrangement is present?

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

    Which type of chromosomal disorder involves an entire single chromosome being added?

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

    What is seen when a portion of a chromosome has broken off in two places and formed a circle or ring?

    <p>Ring chromosome</p> Signup and view all the answers

    What is the most clinically significant structural abnormality involving the rearrangement of genetic material with neither an overall gain nor loss?

    <p>Balanced abnormalities</p> Signup and view all the answers

    Which of the following involves having too much or too little genetic material due to breakage and loss of a portion of one or more chromosomes?

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

    What are gender-specific chromosomal abnormalities that may cause infertility, growth abnormalities, and possibly behavioral and learning problems?

    <p>Turner syndrome and Klinefelter syndrome</p> Signup and view all the answers

    'Ring chromosomes' are seen when a portion of a chromosome has broken off in two places and formed what shape?

    <p>&quot;O&quot; shape or ring</p> Signup and view all the answers

    What is the term for the failure of separation of the chromosome pair during cell division, meiosis, or mitosis?

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

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