Podcast
Questions and Answers
What is a wild-type allele?
What is a wild-type allele?
- The most frequently encountered allele in a population (correct)
- An allele that is the least frequently found in a population
- An allele that does not alter the phenotype
- An allele that causes a loss of function due to mutation
What characterizes a loss of function mutation?
What characterizes a loss of function mutation?
- It enhances gene activity significantly
- It produces a neutral outcome for the organism
- It results in diminished functionality of the gene (correct)
- It leads to no change in gene functionality
In codominance, what is true about the expression of genes in heterozygotes?
In codominance, what is true about the expression of genes in heterozygotes?
- Both alleles are expressed equally and distinctly (correct)
- Only the wild-type allele is visible in the phenotype
- One allele is dominant and suppresses the other
- It results in a blending of traits
Which statement describes a gain of function mutation?
Which statement describes a gain of function mutation?
What characteristic distinguishes the Barr body in human cells?
What characteristic distinguishes the Barr body in human cells?
What signifies a null allele?
What signifies a null allele?
Which method is typically used to enable the study of karyotypes?
Which method is typically used to enable the study of karyotypes?
How many Barr bodies would a normal human female typically have?
How many Barr bodies would a normal human female typically have?
What is true regarding incomplete dominance?
What is true regarding incomplete dominance?
In the context of chromosome abnormalities, what does '47, XX, +21' signify?
In the context of chromosome abnormalities, what does '47, XX, +21' signify?
What type of mutation might not alter the activity of a gene?
What type of mutation might not alter the activity of a gene?
How are dominant alleles represented in notation?
How are dominant alleles represented in notation?
What is the fundamental number (FN) in karyotyping?
What is the fundamental number (FN) in karyotyping?
Which of the following cells can provide information about the sex of an unborn fetus?
Which of the following cells can provide information about the sex of an unborn fetus?
What typically reflects an extra chromosome in a karyotype analysis?
What typically reflects an extra chromosome in a karyotype analysis?
Which stage of cell division is most suitable for staining to observe chromosomes?
Which stage of cell division is most suitable for staining to observe chromosomes?
What characterizes the Bombay phenotype in blood type classification?
What characterizes the Bombay phenotype in blood type classification?
What does genetic linkage refer to?
What does genetic linkage refer to?
What is epistasis in genetics?
What is epistasis in genetics?
What is a novel phenotype based on gene interaction?
What is a novel phenotype based on gene interaction?
What is the primary function of genes according to the content?
What is the primary function of genes according to the content?
Which option describes lethal alleles?
Which option describes lethal alleles?
Who was responsible for the earliest drawing of chromosomes?
Who was responsible for the earliest drawing of chromosomes?
What does the 9:3:3:1 Mendelian ratio represent?
What does the 9:3:3:1 Mendelian ratio represent?
What substance was used by cytogeneticists to arrest cells during division for chromosome observation?
What substance was used by cytogeneticists to arrest cells during division for chromosome observation?
What technology improves the visibility of chromosomes for karyotyping?
What technology improves the visibility of chromosomes for karyotyping?
What does FISH stand for in the context of chromosome observation?
What does FISH stand for in the context of chromosome observation?
Which of the following best describes the purpose of colchicine in chromosome preparation?
Which of the following best describes the purpose of colchicine in chromosome preparation?
What is the primary benefit of using computer scans in the karyotyping process?
What is the primary benefit of using computer scans in the karyotyping process?
What role does the SkyView EXPO system play in karyotyping?
What role does the SkyView EXPO system play in karyotyping?
What is the result when the software detects an abnormal band pattern in a karyotype?
What is the result when the software detects an abnormal band pattern in a karyotype?
What is one of the significant challenges faced while preparing cells for chromosome observation?
What is one of the significant challenges faced while preparing cells for chromosome observation?
What does the fundamental number (FN) represent in a karyotype?
What does the fundamental number (FN) represent in a karyotype?
In the context of diploid and haploid conditions, which group commonly exhibits haplo-diploidy?
In the context of diploid and haploid conditions, which group commonly exhibits haplo-diploidy?
What is defined as the fundamental autosomal number (FNa) in a karyotype?
What is defined as the fundamental autosomal number (FNa) in a karyotype?
What process results in a polyploid nucleus without division of the cell nucleus?
What process results in a polyploid nucleus without division of the cell nucleus?
Which chromosomes are classified as acrocentric in humans?
Which chromosomes are classified as acrocentric in humans?
Which correct inequality represents the relationship involving FN and haploid sets?
Which correct inequality represents the relationship involving FN and haploid sets?
What is the primary significance of polyploidy in plant evolution?
What is the primary significance of polyploidy in plant evolution?
In what scenario do cells typically undergo endomitosis?
In what scenario do cells typically undergo endomitosis?
What role does Giemsa play in chromosome banding?
What role does Giemsa play in chromosome banding?
How does digital karyotyping help in analysis?
How does digital karyotyping help in analysis?
What characteristic is used to classify chromosomes into groups?
What characteristic is used to classify chromosomes into groups?
Which group of chromosomes is identified as having median centromeres?
Which group of chromosomes is identified as having median centromeres?
Which chromosomes are classified as acrocentric?
Which chromosomes are classified as acrocentric?
Which statement accurately describes quinacrine's function?
Which statement accurately describes quinacrine's function?
What feature differentiates Group B chromosomes from others?
What feature differentiates Group B chromosomes from others?
What is the purpose of assigning pseudo colors in image processing for karyotyping?
What is the purpose of assigning pseudo colors in image processing for karyotyping?
Flashcards
Wild-type Allele
Wild-type Allele
The most frequently encountered allele in a population, considered the 'normal' version.
Null Allele
Null Allele
A mutation that completely eliminates the function of a gene.
Mutation
Mutation
Any change in the genetic sequence of a gene.
Gain of Function Mutation
Gain of Function Mutation
A mutation that increases the activity of a gene.
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Loss of Function Mutation
Loss of Function Mutation
A mutation that decreases the functionality of a gene.
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Neutral Mutation
Neutral Mutation
A mutation that doesn't significantly alter the activity of a gene.
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Recessive Allele
Recessive Allele
An allele that has a weaker effect compared to the dominant allele, only visible in homozygous conditions.
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Dominant Allele
Dominant Allele
An allele that expresses its trait even when paired with a different allele.
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Ideogram
Ideogram
A schematic representation of a chromosome, showing its arms (p and q) and major regions based on banding patterns.
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Chromosome Staining
Chromosome Staining
The process of using dyes to distinguish different chromosomes based on their banding patterns.
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Metaphase
Metaphase
The most condensed stage of cell division, where chromosomes are easily visible.
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Giemsa stain
Giemsa stain
A specific type of dye used to visualize chromosomes.
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X Chromosome Inactivation
X Chromosome Inactivation
The inactivation of one X chromosome in female somatic cells, resulting in a condensed structure called a Barr body.
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Barr body
Barr body
The inactive X chromosome in a female somatic cell, visible as a dense, darkly stained region.
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Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
An individual with an extra copy of chromosome 21, resulting in Down syndrome.
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48, XXYY
48, XXYY
A male individual with an extra Y chromosome.
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Bombay Phenotype
Bombay Phenotype
A rare blood type where individuals lack A or B antigens, appearing to have type O blood despite potentially carrying unexpressed A or B alleles.
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Genetic Linkage
Genetic Linkage
The tendency for alleles located close together on the same chromosome to be inherited together as a unit during meiosis.
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Epistasis
Epistasis
The situation where the expression of one gene is influenced or masked by the expression of another, non-allelic gene. This can lead to unique phenotypic outcomes.
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Lethal Alleles
Lethal Alleles
A genetic mutation that can potentially lead to death, often due to the loss of function of essential genes.
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Novel Phenotype
Novel Phenotype
A new or unique phenotype that emerges in the F2 generation due to gene interactions.
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Karyotyping
Karyotyping
The process of visually examining and arranging chromosomes based on their size, shape, and banding patterns. It's used to analyze chromosome structure and detect abnormalities.
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Walter Flemming's Chromosome Drawing
Walter Flemming's Chromosome Drawing
The earliest known drawing of chromosomes, created by German biologist Walter Flemming in 1882.
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Cytogenetics
Cytogenetics
The study of chromosomes, their structure, function, and abnormalities.
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Fundamental Number (FN)
Fundamental Number (FN)
The number of chromosome arms visible in a complete set of chromosomes in a karyotype. It considers single-armed chromosomes (acrocentric or telocentric) separately.
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Colchicine
Colchicine
A chemical substance extracted from the crocus plant, used to stop cells during division (metaphase) to allow for clearer visualization of chromosomes.
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Fundamental Autosomal Number (FNa)
Fundamental Autosomal Number (FNa)
The number of visible major chromosomal arms per set of autosomes in a karyotype.
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Polyploidy
Polyploidy
A state in which cells contain more than two complete sets of chromosomes.
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FISH (Fluorescence In Situ Hybridization)
FISH (Fluorescence In Situ Hybridization)
A method for visualizing chromosomes by using fluorescently labeled DNA probes that bind to specific DNA sequences.
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Image Analysis Software
Image Analysis Software
A software tool that can recognize and arrange chromosome patterns, automating karyotype creation.
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Endopolyploidy
Endopolyploidy
A type of polyploidy where there are more than two sets of chromosomes within a cell.
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Cell Preparation
Cell Preparation
A technique used to prepare a cell for karyotyping, ensuring the chromosomes are separated and spread out, making them easier to visualize.
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Endomitosis
Endomitosis
A process within endopolyploidy where chromosomes replicate without the division of the nucleus, resulting in a polyploid nucleus.
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Haplo-Diploidy
Haplo-Diploidy
A state where one sex is diploid (two sets of chromosomes) and the other sex is haploid (one set of chromosomes).
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Chromosome Overlap
Chromosome Overlap
The difficulty in distinguishing between two chromosome numbers due to overlapping or poor cell preparation.
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Karyotype Database
Karyotype Database
A database that contains information on various chromosome abnormalities, allowing comparison and identification of similar karyotypes.
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Aneuploidy
Aneuploidy
A chromosome abnormality that occurs when the number of chromosomes in a cell is not a multiple of the haploid number.
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Deletion
Deletion
A karyotype where there is a loss of a portion of a chromosome.
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SkyView EXPO
SkyView EXPO
An automatic system that uses spectral imaging to analyze and display chromosomes, simplifying the process of karyotyping and providing more detailed information.
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Chromosome banding
Chromosome banding
A technique used to visualize chromosomes by staining them with dyes to create distinctive banding patterns.
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Quinacrine staining
Quinacrine staining
A specific dye used to stain chromosomes, revealing bands that are rich in adenine-thymine base pairs.
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Chromosome classification for karyotyping
Chromosome classification for karyotyping
A chromosome classification system that organizes chromosomes into seven groups based on their length and the position of their centromere.
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Digital karyotyping
Digital karyotyping
A method that analyzes the entire human genome to identify and quantify changes in DNA copy number across the chromosomes.
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Median centromere
Median centromere
Chromosomes with a centromere located near the middle of the chromosome.
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Acrocentric centromere
Acrocentric centromere
Chromosomes with a centromere located very close to one end of the chromosome.
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Submedian centromere
Submedian centromere
Chromosomes with a centromere located between the middle and one end of the chromosome.
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Modification of Mendelian Ratios
- Alleles alter phenotypes in various ways.
- Wild-type allele (R1) is red, Mutant allele (R2) is white.
- This mutation type is loss of function.
- Terminologies include wild-type, null allele, mutation, gain-of-function mutation, and loss-of-function mutation.
- Gain-of-function mutation—increased activity of a gene due to mutation.
- Loss-of-function mutation—mutation decreases the gene's function.
- Neutral mutation—a mutation that does not alter gene activity.
- Geneticists use lowercase and italicized for recessive alleles and an uppercase and italicized for dominant alleles.
- Incomplete/Partial dominance—neither allele is dominant, resulting in an intermediate phenotype.
- Codominance—both alleles are dominant in heterozygotes, expressing two distinct gene products equally.
- MN Blood group system—illustrates codominance, where inheriting both alleles leads to production of both glycoproteins (M and N).
- The MN blood group system shows the expression of both alleles (M and N) in a heterozygote (LM LN).
Multiple Alleles of a Gene
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Multiple alleles—the existence of three or more alleles for one gene in a population.
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ABO blood group—an example, featuring three alternative alleles of one gene (A, B, and O).
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Four ABO blood phenotypes: A, B, AB, and O. - A antigen (A phenotype) - B antigen (B phenotype) - A and B antigen (AB phenotype) - Neither antigen (O phenotype)
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Bombay phenotype—a rare variant where individuals don’t have A or B antigens, appearing as type O despite having a different genotype.
Karyotyping
- Karyotyping—analysis of chromosomes to detect abnormalities.
- Used in prenatal testing, cancer detection, and unknown etiology diagnosis.
- Karyotyping prep involves culturing cells, synchronizing cell division, harvesting cells, analyzing chromosomes, staining slides, and preparing slides.
- Techniques like squashing and swelling cells aid in separating chromosomes.
- Karyotypes are once constructed by manually viewing cell under microscope, photographing, and arranging chromosomes by size to create karyotype chart. Modern approach uses computerized image analysis.
- Giemsa stain is commonly used in karyotype studies.
- Chromosomal abnormalities, like Down Syndrome, Turner Syndrome, Klinefelter syndrome, can be detected by analyzing chromosome structure and number.
FISH and Fluorescence In Situ Hybridization
- FISH (Fluorescence In Situ Hybridization)—a more precise chromosome staining method using DNA probes that are complementary to specific DNA sequences, highlighting specific regions or chromosomes.
Ploidy
- Ploidy—the number of complete sets of chromosomes in a cell.
- Polyploidy—occurs when a cell contains more than two sets of homologous chromosomes, commonly in plants.
- Haplo-diploidy—a reproductive system where one sex is haploid, and the other diploid, frequently seen in Hymenoptera (e.g., bees and ants).
Aneuploidy
- Aneuploidy—abnormal number of chromosomes in cells, causing developmental abnormalities.
- Examples include Down syndrome (extra chromosome 21) and Turner syndrome (missing or abnormal X chromosome).
Euploidy
- Euploidy—having complete sets of chromosomes (e.g., 2n).
- Some individuals may have more than one complete diploid genome in a cell.
Techniques
- G-banding, R-banding, C-banding, and Q-banding, are different techniques to visualize chromosomes under a microscope in different colors using stains on chromosomes
- T-banding visualizes telomeres.
Chromosome Classification
- Chromosomes are grouped based on size and centromere position (median, submedian, acrocentric) into seven groups. (A-G)
- Specific chromosome banding patterns are used by geneticists to identify and differentiate chromosomes. For example, chromosome 19 and 20 are in group F.
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