Introduction to Cytogenetics and Human Genetics
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Questions and Answers

En quina fase del cicle cel·lular s'analitza l'estructura del cromosoma en un estudi citogenètic?

  • Anafase
  • Metafase (correct)
  • Telofase
  • Interfase

Què són les cromàtides en un cromosoma metafàsic?

  • Complexos proteics que unen els cromàtides
  • Regions especialitzades per a la divisió cel·lular
  • Molècules d'ADN diferents a cada extrem del cromosoma
  • Filaments lineals i paral·lels d'ADN (correct)

Quin és l'objectiu principal de la citogenètica humana?

  • Estudi de l'estructura i la funció de les proteïnes
  • Identificació de diferents tipus de cèl·lules
  • Replicació de l'ADN durant la mitosi
  • Diagnostic, pronòstic i evolució de malalties amb base genètica (correct)

Què manté unides les cromàtides en un cromosoma metafàsic?

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

Quina és la funció del centròmer durant la mitosi?

<p>Separar les cromàtides (C)</p> Signup and view all the answers

Quina és la funció del telòmer en un cromosoma?

<p>Protegir el cromosoma davant de nucleases (B)</p> Signup and view all the answers

Com es classifiquen els cromosomes basant-se en la posició del centròmer?

<p>Metacèntrics, submetacentrics, acrocèntrics i telocèntrics (D)</p> Signup and view all the answers

Quina és la característica diferencial dels cromosomes acrocèntrics?

<p>El centròmer es troba a l'extrem d'un dels braços (B)</p> Signup and view all the answers

Què és l'índex centromèric (Ic) d'un cromosoma?

<p>La relació entre la longitud del braç curt i la longitud total del cromosoma (A)</p> Signup and view all the answers

Quina és la funció principal de les constriccions secundàries en els cromosomes?

<p>Afavorir la formació del nuclèol (D)</p> Signup and view all the answers

Quina és la funció de les cohesines en un cromosoma metafàsic?

<p>Mantenir unides les cromàtides (D)</p> Signup and view all the answers

Què distingueix les cromàtides en un cromosoma metafàsic?

<p>Són dos filaments lineals i paral·lels exactament iguals (D)</p> Signup and view all the answers

En quina fase del cicle cel·lular s'observa el màxim grau de compactació del cromosoma?

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

Què conté una molècula lineal d'ADN associada amb les proteïnes d'un cromosoma?

<p>La part de la informació genètica de l'individu (C)</p> Signup and view all the answers

Què són les constriccions secundàries dels cromosomes?

<p>Estrenyiments menys profunds que el centròmer. (C)</p> Signup and view all the answers

Quin és l'índex centromèric (Ic) d'un cromosoma metacèntric?

<p>Aproximadament 50 (C)</p> Signup and view all the answers

Quina és la funció principal del telòmer en un cromosoma?

<p>Replicació del cromosoma. (B)</p> Signup and view all the answers

Com es classifiquen els cromosomes basant-se en la longitud dels braços?

<p>Metacèntrics, acrocèntrics, submetacentrics i telocèntrics. (B)</p> Signup and view all the answers

Quina és la funció de l'organitzador nucleolar en un cromosoma?

<p>Formació del nuclèol. (A)</p> Signup and view all the answers

Quina és la característica diferencial dels cromosomes telocèntrics?

<p>'Ic' = 0, només hi ha un braç llarg. (C)</p> Signup and view all the answers

Flashcards

What cell cycle stage is chromosome analysis done in?

The stage in the cell cycle where an individual chromosome's structure is studied.

What are chromatids?

They are the linear and parallel strands of DNA that make up a metaphase chromosome.

What's the primary goal of human cytogenetics?

The main goal is to use genetic information to diagnose, predict, and track genetic diseases.

What are cohesins?

They are proteins that hold sister chromatids together in a metaphase chromosome.

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What is the function of the centromere during mitosis?

It ensures the separation of chromatids during mitosis, allowing the creation of two daughter cells.

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What is the function of a telomere?

Telomeres protect the chromosome from degradation by nucleases.

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How are chromosomes classified by centromere location?

Chromosomes are categorized based on the location of their centromere: metacentric, submetacentric, acrocentric, and telocentric.

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What is the defining feature of acrocentric chromosomes?

The centromere is located at the very end of one of the arms.

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What is the centromeric index (IC) of a chromosome?

It is calculated by dividing the length of the short arm by the total length of the chromosome.

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What is the main function of secondary constrictions in chromosomes?

They contribute to the formation of the nucleolus, a structure involved in ribosome production.

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What is the function of cohesins in a metaphase chromosome?

They maintain the connection between sister chromatids during metaphase.

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What distinguishes chromatids in a metaphase chromosome?

They are two identical copies of chromosomes that are held together by a centromere and are separated during mitosis.

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In which phase of the cell cycle is chromosome compaction maximum?

It's during metaphase; the chromosomes become more tightly packed and condensed during this stage.

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What does a linear DNA molecule associated with proteins in a chromosome contain?

It contains the genetic information for an individual.

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What are secondary constrictions in chromosomes?

They are constrictions in the chromosome that are less deep than the centromere, typically associated with the nucleolus organizer region.

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What is the centromeric index (IC) of a metacentric chromosome?

It is approximately 50, indicating that the centromere is situated roughly in the middle of the chromosome.

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What is the main function of the telomere?

They help with the replication of the chromosome, ensuring that each daughter cell receives a complete set of genetic material.

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How are chromosomes classified based on arm length?

They are further categorized into metacentric, submetacentric, acrocentric, and telocentric based on centromere position and arm length.

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What is the function of the nucleolar organizer in a chromosome?

It is a region on a chromosome that aids in the formation of the nucleolus, a structure essential for ribosome production.

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What is the defining feature of a telocentric chromosome?

It has an IC of 0, meaning it has only a long arm.

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