Lec 1 MCQ - Inheritance Patterns Quiz

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Questions and Answers

Which term refers to all of the hereditary information that an organism has encoded in its DNA?

  • Genome (correct)
  • Chromosome
  • Incomplete dominance
  • Dominant

What is a threadlike structure of DNA and protein found in the nucleus of most living cells called?

  • Incomplete dominance
  • Chromosome (correct)
  • Dominant
  • Genome

How many pairs of chromosomes do human cells have?

  • 23 (correct)
  • 24
  • 22
  • 46

What is the term used to describe the concept where one allele masks the expression of another allele?

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

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

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

What is the term used to describe the percentage of individuals with a particular genotype who show the expected phenotype?

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

Which of the following best describes a gene?

<p>A unit of heredity responsible for a character/trait of an offspring (B)</p> Signup and view all the answers

What is the term for a gene with identical alleles on both homologous chromosomes?

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

Which of the following best describes phenotype?

<p>Observable physical or biochemical characteristics of an organism (B)</p> Signup and view all the answers

What is the term for a specific part or element of the total phenotype?

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

Which of the following best describes Mendelian characters?

<p>Specific identifiable traits that show a clear pattern of inheritance (A)</p> Signup and view all the answers

What is the term for the extent to which a phenotype/trait is manifest when the appropriate genotype is present?

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

Which one of the following best describes incomplete penetrance?

<p>The phenotype only expressed in a fraction (%) of the population with the genotype (B)</p> Signup and view all the answers

What is the definition of variable expressivity?

<p>A range of symptoms displayed in individuals with the same fully penetrant genotype (C)</p> Signup and view all the answers

What is the difference between penetrance and variable expressivity?

<p>Penetrance is the probability of a genotype/trait being expressed, while variable expressivity is a range of symptoms displayed in individuals with the same fully penetrant genotype. (D)</p> Signup and view all the answers

What is incomplete dominance?

<p>The clinical phenotype of most dominant genetic traits in heterozygotes (Aa) is in-between that of wild-type (aa) and mutant homozygotes (AA) (A)</p> Signup and view all the answers

What is the clinical phenotype of most dominant genetic traits in heterozygotes (Aa) in incomplete dominance?

<p>In-between that of wild-type (aa) and mutant homozygotes (AA) (B)</p> Signup and view all the answers

What is the result of homozygosity for a disease-causing mutation (AA) with a dominant pattern of inheritance?

<p>Much more severe clinical phenotype (C)</p> Signup and view all the answers

What is an example of incomplete dominance?

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

What is the clinical phenotype of homozygosity for FGFR3 mutation (FF) in Achondroplasia?

<p>Stillborn/early death due to respiratory failure (underdeveloped rib cage) (A)</p> Signup and view all the answers

Which one of the following is an example of an autosomal dominant disease?

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

Which one of the following is an example of an X-linked recessive disease?

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

Which one of the following is an example of a polygenic/multifactorial trait?

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

Which of the following is a characteristic of Klippel-Feil Syndrome?

<p>Decreased range of motion in the thoracic spine (D)</p> Signup and view all the answers

What is the difference between hereditary and congenital disorders?

<p>Hereditary disorders are caused by genetic mutations, while congenital disorders are present at birth (D)</p> Signup and view all the answers

What is the term for a gene with identical alleles on both homologous chromosomes?

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

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

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

Which technique is used to visualize the location of specific nucleotide sequences and determine if a sequence is present on a chromosome?

<p>Fluorescent In Situ Hybridization (FISH) (D)</p> Signup and view all the answers

What is the main purpose of Multiplex FISH (M-FISH)?

<p>To paint whole chromosomes (C)</p> Signup and view all the answers

Which type of structural chromosome abnormality involves the deletion of a part of a chromosome?

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

What is the main characteristic of large deletions (>5 Mb)?

<p>They have severe effects and are often lethal (C)</p> Signup and view all the answers

Under which category of structural chromosome abnormalities do large deletions (>5 Mb) fall?

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

Are large deletions (>5 Mb) clinically relevant?

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

What is the heritability of structural chromosome abnormalities?

<p>They are heritable only if present in the germ line (A)</p> Signup and view all the answers

Which type of structural chromosome abnormality involves a change in chromosome structure caused by breakage and abnormal realignment?

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

What is the prevalence of structural chromosome abnormalities in births?

<p>1 in every 375 births (D)</p> Signup and view all the answers

Which technique is used to detect small chromosomal rearrangements and paint whole chromosomes?

<p>Multiplex FISH (M-FISH) (C)</p> Signup and view all the answers

Which type of chromatin is associated with active gene expression?

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

What is the purpose of staining chromosomes with Giemsa?

<p>To visualize and differentiate chromosomes (B)</p> Signup and view all the answers

Which technique is used to identify chromosomes by banding patterns?

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

What is the purpose of the International System for Human Cytogenetic Nomenclature (ISCN)?

<p>To name gross chromosomal abnormalities (C)</p> Signup and view all the answers

What do the letters 'p' and 'q' represent in the International System for Human Cytogenetic Nomenclature (ISCN)?

<p>Small region near the centromere and large region near the centromere (C)</p> Signup and view all the answers

How are chromosome regions counted in the International System for Human Cytogenetic Nomenclature (ISCN)?

<p>From the centromere to the telomere (C)</p> Signup and view all the answers

What is the purpose of a karyotype?

<p>To visualize and differentiate chromosomes (D)</p> Signup and view all the answers

What is the resolution limitation of conventional cytogenetics?

<p>Detects gross chromosomal changes (&gt;5 Mb) (D)</p> Signup and view all the answers

Which cells are commonly used for cytogenetic analysis?

<p>Chorionic villi or amniotic fluid (D)</p> Signup and view all the answers

What is the purpose of chemical preparation in cytogenetics?

<p>To arrest cells and lyse nuclei (D)</p> Signup and view all the answers

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