Exploring Genetic Causes of Diseases
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Questions and Answers

In X-linked inheritance, what is the chance of affected sons when a heterozygous carrier female parent mates with a normal male parent?

  • 100%
  • 75%
  • 50% (correct)
  • 25%

Which type of mutation involves changes in chromosome structure or number?

  • Point mutations
  • Chromosomal mutations (correct)
  • Substitution mutations
  • Insertion mutations

What is the genetic implication related to the treatment of genetic disorders?

  • Social implications
  • Genetic testing
  • Gene therapy (correct)
  • Ethical considerations

Which of the following disorders is an example of an autosomal recessive disorder?

<p>Sickle cell anemia (D)</p> Signup and view all the answers

Why is there no father-to-son transmission in all sex-linked inheritance?

<p>Fathers pass on their Y chromosome to sons. (A)</p> Signup and view all the answers

What is the probability of parental consanguinity if the genetic trait is rare in the population?

<p>The probability of parental consanguinity is increased (B)</p> Signup and view all the answers

What is the key difference between the inheritance patterns of autosomal recessive disorders and X-linked disorders?

<p>In autosomal recessive disorders, affected individuals must inherit the mutant allele from both parents, while in X-linked disorders, affected males only need to inherit the mutant allele from their mother (B)</p> Signup and view all the answers

What is the key difference in the enzyme function between homozygotes and heterozygotes for autosomal recessive disorders?

<p>Homozygotes have no normal enzyme, while heterozygotes have equal amounts of normal and defective enzymes (B)</p> Signup and view all the answers

Which of the following is an example of an X-linked disorder?

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

What is the key difference between point mutations and chromosomal mutations?

<p>Point mutations involve changes in a single nucleotide, while chromosomal mutations involve changes in the overall structure or number of chromosomes (B)</p> Signup and view all the answers

Which component of genetics is described as a double helix structure containing genetic information?

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

How many pairs of homologous autosomes does a typical normal human cell contain?

<p>23 (B)</p> Signup and view all the answers

Which pair of chromosomes carries matching genetic information?

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

In a chromosome, DNA is composed of how many complementary chains of deoxynucleotides?

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

Where in a chromosome is DNA bound to histones and other proteins?

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

Which part of the chromosome is inherited from the mother and father?

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

What is the primary function of DNA according to the passage?

<p>DNA transmits genetic information to offspring. (D)</p> Signup and view all the answers

What is the relationship between the DNA sequence and the amino acid sequence of a protein?

<p>The DNA sequence is translated into the corresponding RNA sequence, which is then translated into the protein sequence. (A)</p> Signup and view all the answers

What is the key difference between germline mutations and somatic mutations?

<p>Germline mutations can be passed to offspring, while somatic mutations cannot. (A)</p> Signup and view all the answers

Which of the following is an example of a numerical chromosomal disorder?

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

Which of the following is a characteristic feature of Down syndrome?

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

What is the most common type of genetic disorder according to the passage?

<p>Multifactorial disorders (B)</p> Signup and view all the answers

What is the key difference between aneuploidy and polyploidy?

<p>Aneuploidy involves the addition or loss of one or two chromosomes, while polyploidy involves the addition of complete haploid sets of chromosomes. (A)</p> Signup and view all the answers

Which of the following is a characteristic of structural chromosomal anomalies?

<p>They can be either genetically balanced or unbalanced. (D)</p> Signup and view all the answers

What is the key difference between Mendelian disorders and multifactorial disorders?

<p>Mendelian disorders are caused by a single gene, while multifactorial disorders involve multiple genes. (C)</p> Signup and view all the answers

What is the approximate frequency of chromosomal disorders among live born infants?

<p>1-5% (B)</p> Signup and view all the answers

What is the primary characteristic of autosomal dominant disorders?

<p>The disease allele needs to be present in only one copy to result in the phenotype. (D)</p> Signup and view all the answers

Which of the following is NOT a characteristic of autosomal recessive disorders?

<p>In the mating of two heterozygous carriers, the chance of an affected child is 100%. (A)</p> Signup and view all the answers

What is the primary cause of autosomal dominant disorders?

<p>Both loss of function and gain of function mutations can cause autosomal dominant disorders. (C)</p> Signup and view all the answers

Which of the following is an example of an autosomal dominant disorder?

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

What is the primary characteristic of multifactorial disorders?

<p>They result from the combined actions of environmental factors and two or more mutant genes. (A)</p> Signup and view all the answers

Which of the following is an example of a multifactorial disorder?

<p>Diabetes mellitus (B)</p> Signup and view all the answers

What is the primary characteristic of single gene disorders with non-classic inheritance?

<p>They are caused by mutations in mitochondrial genes or involve genomic imprinting. (D)</p> Signup and view all the answers

Which of the following is an example of a single gene disorder with non-classic inheritance?

<p>Leber hereditary optic neuropathy (B)</p> Signup and view all the answers

What is the primary characteristic of Mendelian disorders?

<p>They are caused by a single mutant gene affecting protein function. (B)</p> Signup and view all the answers

Which of the following is an example of a Mendelian disorder?

<p>Marfan syndrome (B)</p> Signup and view all the answers

Which type of inheritance pattern leads to the production of affected daughters by mating a heterozygous female with an affected male?

<p>X-linked inheritance (B)</p> Signup and view all the answers

What is the genetic implication related to social and ethical aspects of genetic disorders?

<p>Privacy, discrimination, and genetic engineering (B)</p> Signup and view all the answers

Which mutation type results in single nucleotide changes like substitutions, insertions, or deletions?

<p>Point mutations (B)</p> Signup and view all the answers

In the context of autosomal recessive disorders, what is the outcome for heterozygotes?

<p>They exhibit normal enzyme function (B)</p> Signup and view all the answers

Which trait is carried on the Y chromosome, resulting in male-pattern baldness?

<p>Male-pattern baldness (androgenetic alopecia) (A)</p> Signup and view all the answers

What is the key characteristic of X-linked inheritance in terms of father-to-son transmission?

<p>No father-to-son transmission due to the X chromosome inheritance (A)</p> Signup and view all the answers

Which type of genetic disorder occurs due to abnormalities in an individual's genome?

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

'Equal amounts of normal & defective enzymes' in heterozygotes for autosomal recessive disorders result in what cellular function?

<p><strong>Normal</strong> enzyme functions (D)</p> Signup and view all the answers

'Loss of function mutations' in autosomal recessive disorders lead to what outcome?

<p>'No normal enzyme' &amp; disease in homozygotes (C)</p> Signup and view all the answers

'Trait carried on the X chromosome' describes which type of inheritance pattern?

<p>'X-linked inheritance' (B)</p> Signup and view all the answers

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