Mendelian Ratios in Genetics

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Questions and Answers

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?

  • 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?

  • 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?

<p>It results in increased activity of a gene (B)</p> Signup and view all the answers

What characteristic distinguishes the Barr body in human cells?

<p>It is formed from one of the X chromosomes in females. (B)</p> Signup and view all the answers

What signifies a null allele?

<p>The eventual total loss of gene function due to mutation (C)</p> Signup and view all the answers

Which method is typically used to enable the study of karyotypes?

<p>Staining with suitable dyes (D)</p> Signup and view all the answers

How many Barr bodies would a normal human female typically have?

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

What is true regarding incomplete dominance?

<p>Both alleles blend to form a third phenotype (D)</p> Signup and view all the answers

In the context of chromosome abnormalities, what does '47, XX, +21' signify?

<p>A female with an additional chromosome 21. (D)</p> Signup and view all the answers

What type of mutation might not alter the activity of a gene?

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

How are dominant alleles represented in notation?

<p>In uppercase letters without italics (C)</p> Signup and view all the answers

What is the fundamental number (FN) in karyotyping?

<p>The total number of chromosomes in a somatic cell. (D)</p> Signup and view all the answers

Which of the following cells can provide information about the sex of an unborn fetus?

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

What typically reflects an extra chromosome in a karyotype analysis?

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

Which stage of cell division is most suitable for staining to observe chromosomes?

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

What characterizes the Bombay phenotype in blood type classification?

<p>Absence of A and B antigens, presenting as type O (D)</p> Signup and view all the answers

What does genetic linkage refer to?

<p>Tendency for alleles on the same chromosome to be inherited together (A)</p> Signup and view all the answers

What is epistasis in genetics?

<p>A situation where one gene masks or modifies the expression of another gene (B)</p> Signup and view all the answers

What is a novel phenotype based on gene interaction?

<p>A new phenotype that arises due to interactions between two genes (D)</p> Signup and view all the answers

What is the primary function of genes according to the content?

<p>To facilitate essential life processes (A)</p> Signup and view all the answers

Which option describes lethal alleles?

<p>Genetic mutations that may lead to death (A)</p> Signup and view all the answers

Who was responsible for the earliest drawing of chromosomes?

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

What does the 9:3:3:1 Mendelian ratio represent?

<p>Expected phenotypic ratios in a dihybrid cross (D)</p> Signup and view all the answers

What substance was used by cytogeneticists to arrest cells during division for chromosome observation?

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

What technology improves the visibility of chromosomes for karyotyping?

<p>Image Analysis Software (B)</p> Signup and view all the answers

What does FISH stand for in the context of chromosome observation?

<p>Fluorescence In Situ Hybridization (A)</p> Signup and view all the answers

Which of the following best describes the purpose of colchicine in chromosome preparation?

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

What is the primary benefit of using computer scans in the karyotyping process?

<p>To select a cell with visible chromosomes (D)</p> Signup and view all the answers

What role does the SkyView EXPO system play in karyotyping?

<p>It allows interaction with banded and multi-color images (A)</p> Signup and view all the answers

What is the result when the software detects an abnormal band pattern in a karyotype?

<p>It accesses a database with similar karyotypes (B)</p> Signup and view all the answers

What is one of the significant challenges faced while preparing cells for chromosome observation?

<p>Ensuring chromosomes do not overlap (B)</p> Signup and view all the answers

What does the fundamental number (FN) represent in a karyotype?

<p>The number of major chromosomal arms per set (B)</p> Signup and view all the answers

In the context of diploid and haploid conditions, which group commonly exhibits haplo-diploidy?

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

What is defined as the fundamental autosomal number (FNa) in a karyotype?

<p>The number of major chromosomal arms seen in non-sex linked chromosomes (C)</p> Signup and view all the answers

What process results in a polyploid nucleus without division of the cell nucleus?

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

Which chromosomes are classified as acrocentric in humans?

<p>Chromosomes 13, 14, 15, 21, 22 (C)</p> Signup and view all the answers

Which correct inequality represents the relationship involving FN and haploid sets?

<p>FN ≤ 2 x 2n (D)</p> Signup and view all the answers

What is the primary significance of polyploidy in plant evolution?

<p>Increases genetic diversity (B)</p> Signup and view all the answers

In what scenario do cells typically undergo endomitosis?

<p>In fully differentiated adult tissues (B)</p> Signup and view all the answers

What role does Giemsa play in chromosome banding?

<p>It specifically stains phosphate groups of DNA. (B)</p> Signup and view all the answers

How does digital karyotyping help in analysis?

<p>It allows for the quantification of DNA copy number. (A)</p> Signup and view all the answers

What characteristic is used to classify chromosomes into groups?

<p>Size and centromere location. (D)</p> Signup and view all the answers

Which group of chromosomes is identified as having median centromeres?

<p>Group C: chromosomes 6-12. (A), Group E: chromosomes 16-18. (B), Group D: chromosomes 13-15. (C)</p> Signup and view all the answers

Which chromosomes are classified as acrocentric?

<p>Chromosomes 21-22. (C), Chromosomes 13-15. (D)</p> Signup and view all the answers

Which statement accurately describes quinacrine's function?

<p>It binds to adenine-thymine rich regions. (D)</p> Signup and view all the answers

What feature differentiates Group B chromosomes from others?

<p>They consist of chromosomes 4-5 which are large. (A)</p> Signup and view all the answers

What is the purpose of assigning pseudo colors in image processing for karyotyping?

<p>To represent spectrally different combinations distinctly. (A)</p> Signup and view all the answers

Flashcards

Wild-type Allele

The most frequently encountered allele in a population, considered the 'normal' version.

Null Allele

A mutation that completely eliminates the function of a gene.

Mutation

Any change in the genetic sequence of a gene.

Gain of Function Mutation

A mutation that increases the activity of a gene.

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Loss of Function Mutation

A mutation that decreases the functionality of a gene.

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Neutral Mutation

A mutation that doesn't significantly alter the activity of a gene.

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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

An allele that expresses its trait even when paired with a different allele.

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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

The process of using dyes to distinguish different chromosomes based on their banding patterns.

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Metaphase

The most condensed stage of cell division, where chromosomes are easily visible.

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Giemsa stain

A specific type of dye used to visualize chromosomes.

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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

The inactive X chromosome in a female somatic cell, visible as a dense, darkly stained region.

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Trisomy 21 (Down syndrome)

An individual with an extra copy of chromosome 21, resulting in Down syndrome.

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48, XXYY

A male individual with an extra Y chromosome.

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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

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

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

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

A new or unique phenotype that emerges in the F2 generation due to gene interactions.

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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

The earliest known drawing of chromosomes, created by German biologist Walter Flemming in 1882.

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Cytogenetics

The study of chromosomes, their structure, function, and abnormalities.

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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

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)

The number of visible major chromosomal arms per set of autosomes in a karyotype.

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Polyploidy

A state in which cells contain more than two complete sets of chromosomes.

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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

A software tool that can recognize and arrange chromosome patterns, automating karyotype creation.

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Endopolyploidy

A type of polyploidy where there are more than two sets of chromosomes within a cell.

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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

A process within endopolyploidy where chromosomes replicate without the division of the nucleus, resulting in a polyploid nucleus.

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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

The difficulty in distinguishing between two chromosome numbers due to overlapping or poor cell preparation.

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Karyotype Database

A database that contains information on various chromosome abnormalities, allowing comparison and identification of similar karyotypes.

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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

A karyotype where there is a loss of a portion of a chromosome.

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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

A technique used to visualize chromosomes by staining them with dyes to create distinctive banding patterns.

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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

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

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

Chromosomes with a centromere located near the middle of the chromosome.

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Acrocentric centromere

Chromosomes with a centromere located very close to one end of the chromosome.

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Submedian centromere

Chromosomes with a centromere located between the middle and one end of the chromosome.

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Study Notes

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

  • Multiple alleles—the existence of three or more alleles for one gene in a population.

  • ABO blood group—an example, featuring three alternative alleles of one gene (A, B, and O).

  • 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)

  • 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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