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Questions and Answers

What is the purpose of using fluorescence in situ hybridization (FISH) in chromosome analysis?

  • To modify the genetic material of the chromosomes
  • To increase the size of chromosomes for better visibility
  • To apply unique false colors to distinguish chromosomes (correct)
  • To remove excess DNA from the chromosomes

What does a karyotype display?

  • The complete genetic sequence of an organism
  • The interaction between genes in a particular chromosome
  • The physical location of genes on a chromosome
  • The banding patterns and number of chromosomes in a sample (correct)

What are the 'probes' utilized in FISH primarily composed of?

  • Synthetic compounds that enhance chromosomal visibility
  • Pieces of RNA that bind to DNA sequences
  • Segments of DNA designed to attach to specific chromosomal regions (correct)
  • Proteins that aid in chromosome repair

Which of these statements accurately describes the technique of karyotyping?

<p>It visualizes chromosomes by highlighting certain banding patterns (C)</p> Signup and view all the answers

In the context of analyzing fetal cells, what role does the fluid around the fetus play?

<p>It is a source for obtaining fetal cells to sample (D)</p> Signup and view all the answers

What notation represents a male with an extra X and Y chromosome?

<p>47,XXY (A)</p> Signup and view all the answers

What is the purpose of comparing cell-free fetal DNA to parental DNA haplotypes?

<p>To distinguish mutations in the fetus from those in the pregnant woman (C)</p> Signup and view all the answers

Where is the gene encoding the beta-globin subunit of hemoglobin located?

<p>11p15.5 (A)</p> Signup and view all the answers

What do ideograms visually represent?

<p>Arms, bands, and subbands of chromosomes (A)</p> Signup and view all the answers

What type of error in meiosis leads to the production of aneuploidy?

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

What is the function of an indirect test concerning abnormal chromosome numbers?

<p>To indicate an elevated risk based on biochemical markers (A)</p> Signup and view all the answers

Which type of Down syndrome occurs due to a translocation?

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

What percentage of Down syndrome cases does translocation account for?

<p>4 percent (C)</p> Signup and view all the answers

What does the karyotype information include?

<p>Chromosome number and sex chromosome makeup (B)</p> Signup and view all the answers

What is the typical outcome for embryos with serious monosomy conditions?

<p>They typically cease developing. (D)</p> Signup and view all the answers

What kind of mutations can be distinguished using complete analyses of cell-free fetal DNA?

<p>Both de novo and inherited mutations (D)</p> Signup and view all the answers

What type of samples are required to analyze the fetal genome effectively?

<p>Parental blood samples and cell-free fetal DNA (D)</p> Signup and view all the answers

What generally happens to the symptoms associated with sex chromosome aneuploidy?

<p>They produce mild symptoms. (B)</p> Signup and view all the answers

Which chromosome is considered the smallest when measured by gene content?

<p>Chromosome 21 (A)</p> Signup and view all the answers

What term is used for the chromosome parts that lie between protein-rich areas and the telomeres?

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

What is the approximate range in base pairs for subtelomeres?

<p>8,000 to 300,000 (D)</p> Signup and view all the answers

How many protein-encoding genes are estimated to lie in the subtelomere regions of all chromosomes combined?

<p>At least 500 (B)</p> Signup and view all the answers

Which chromosome contains the most genes?

<p>Chromosome 22 (B)</p> Signup and view all the answers

What is the gradual transition area called that leads from telomeres to the protein-rich regions of a chromosome?

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

Which of the following chromosomes is part of the human sex chromosomes?

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

What does the presence of multigene families in chromosomes potentially indicate?

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

What is the consequence of the altered stem cells mentioned in the content?

<p>The infections in the individual ceased. (D)</p> Signup and view all the answers

How does chromothripsis affect offspring according to the content?

<p>It can result in extra or missing genetic material. (B)</p> Signup and view all the answers

What distinguishes heterochromatin from euchromatin?

<p>Heterochromatin contains mostly highly repetitive DNA sequences. (C)</p> Signup and view all the answers

What structural feature divides a chromosome into short (p) and long (q) arms?

<p>The centromere. (C)</p> Signup and view all the answers

What can lead to severe birth defects in the offspring?

<p>Inheriting too few or too many genetic pieces. (B)</p> Signup and view all the answers

Which of the following best describes the process of chromosomal repair during meiosis?

<p>It may lead to mispairing of homologous chromosomes. (B)</p> Signup and view all the answers

What term describes the darker-staining regions on a chromosome?

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

What is a potential outcome for children whose mothers have undergone chromothripsis?

<p>They may exhibit severe birth defects. (B)</p> Signup and view all the answers

What characterizes an aneuploid cell?

<p>Possessing one extra or one missing chromosome (A)</p> Signup and view all the answers

What is indicated by a karyotype with an atypical number of chromosomes?

<p>It may signal an underlying chromosomal abnormality (A)</p> Signup and view all the answers

Which type of chromosome abnormality involves part of a chromosome being duplicated?

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

What term describes an individual with three copies of each chromosome?

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

What is the consequence of most embryos and fetuses with atypical chromosomes?

<p>They are likely to stop developing before birth (B)</p> Signup and view all the answers

Which chromosome abnormality is characterized by a chromosome forming a ring?

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

How does chromothripsis affect chromosomes?

<p>It leads to chromosomes shattering (D)</p> Signup and view all the answers

What defines a euploid chromosome number?

<p>Having a normal set of chromosomes (C)</p> Signup and view all the answers

What type of abnormality occurs when one chromosome is absent?

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

What is the potential outcome associated with triploids in humans?

<p>Triploids can cause a significant number of spontaneous abortions (B)</p> Signup and view all the answers

Flashcards

Chromosome 21

The smallest human chromosome, measured by gene content, containing 225 genes.

Chromosome 22

A human chromosome with 545 genes, comparatively larger than chromosome 21 in terms of gene count, despite similar physical size.

Subtelomeres

Regions of chromosomes located between protein-rich areas and telomeres, containing protein-coding genes.

Karyotype

An image of an organism's chromosome set displayed in pairs according to size and physical landmarks, useful in detecting genetic abnormalities.

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Trisomy 21

A genetic condition where an individual has three copies of chromosome 21 instead of two, leading to Down Syndrome.

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Telomeres

Protective caps at the ends of chromosomes, composed of repeating DNA sequences.

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Multigene Families

Groups of genes located close to each other with very similar sequences, often indicative of recent evolutionary events

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Pseudogenes

Inactive genes that resemble functional genes but do not produce active proteins.

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Chromothripsis

A catastrophic event that breaks a chromosome into many pieces, which are then reassembled in a random order.

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Meiosis

Type of cell division that creates gametes (sex cells).

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Heterochromatin

Dark-staining, condensed regions of a chromosome that are typically less active in gene expression.

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Euchromatin

Light-staining, less condensed regions of a chromosome that are more active in gene expression.

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WHIM syndrome

A genetic disorder affecting white blood cells.

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Mispairing of homologous chromosomes

During meiosis, homologous chromosomes that do not properly align, resulting in an incorrect number of chromosomes in the offspring.

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Chromosome Banding

A technique that uses chemicals to create distinct banding patterns on chromosomes for identification. Each band represents a unique DNA sequence.

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FISH (Fluorescence In Situ Hybridization)

A technique that uses fluorescent probes to identify specific DNA sequences on chromosomes. The probes bind to complementary sequences and light up under a microscope.

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Algorithm in Karyotyping

A computer program used in karyotyping that assigns a unique color to each chromosome, creating a 'painted' karyotype from fluorescent dyes.

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What are the parts of a chromosome?

Chromosomes are composed of two sister chromatids held together at the centromere. Each chromatid comprises a single DNA molecule tightly wound around histone proteins.

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46,XY

The standard chromosomal designation for a male with one X and one Y chromosome.

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46,XX

The standard chromosomal designation for a female with two X chromosomes.

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Ideogram

A graphical representation of a chromosome's structure, showing its arms, bands, and subbands.

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Centromere

The constricted region of a chromosome that connects the two arms.

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Short Arm 'p'

The shorter arm of a chromosome.

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Long Arm 'q'

The longer arm of a chromosome.

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Band

A distinct region of a chromosome that is visible under a microscope.

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Sub-band

Smaller regions within a chromosome band, identified by their number.

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Aneuploidy

A condition where an organism has an abnormal number of chromosomes, either missing or extra.

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Monosomy

A type of aneuploidy where an individual has only one copy of a particular chromosome instead of two.

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Nondisjunction

A meiotic error that results in aneuploidy, where homologous chromosomes fail to separate during cell division.

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Translocation Down Syndrome

A form of Down syndrome where a portion of chromosome 21 is attached to another chromosome, leading to an extra copy of genes from chromosome 21.

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Atypical Karyotype

A karyotype that shows an abnormal number of chromosomes or alterations in chromosome structure, such as deletions, duplications, or rearrangements. This can arise from errors during cell division or from environmental factors.

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Polyploidy

A condition where a cell has more than two sets of chromosomes. This can involve having three sets of chromosomes (triploidy) or even more.

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Chromosomal Abnormalities

Changes in the structure or number of chromosomes. These changes can have wide-ranging effects on an individual's health and development.

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Deletion

A chromosome abnormality where a portion of a chromosome is missing. This can lead to genetic disorders depending on the size and location of the deletion.

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Duplication

A chromosome abnormality where a portion of a chromosome is present twice. This can lead to genetic disorders depending on the size and location of the duplication.

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Translocation

A chromosome abnormality where parts of two chromosomes swap places or combine. This can lead to genetic disorders depending on the involved chromosomes and the extent of the translocation.

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Study Notes

Introduction to Genomes

  • Genomics is the study of genomes
  • A genome is the complete set of genetic material in an organism
  • The human genome was sequenced in the early 2000s.

Sequencing Genomes

  • Early sequencing was slow and expensive, but technology has improved
  • Automated sequencing allows faster and cheaper sequencing
  • Algorithms determine the sequence from overlapping fragments
  • Different methods exist (clone-by-clone, whole genome shotgun)
  • Numerous copies need to be sequenced for accuracy

Analyzing Human Genome Content

  • Reference genome serves as a template for comparison
  • Multiple copies improve sequencing accuracy
  • Exome sequencing is focused on the protein-coding parts of the genome
  • Genome sequencing reveals variations (SNPs, indels, CNVs)

A Genomic View Expands Knowledge

  • Genome sequencing reveals details of crossing over (the exchange of genetic material during meiosis)
  • Maternal age and crossing over are linked to disease risk
  • Newborn sequencing: Benefits include early disease detection and risk assessment, but also ethical concerns and cost

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