Genetics: Basic Concepts

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Questions and Answers

Which of the following statements accurately describes an X-linked recessive disorder?

  • It predominantly affects males. (correct)
  • It affects males and females equally.
  • It affects more females than males.
  • It has no impact on females.

Barr bodies result from the deactivation of one of the X chromosomes in female cells.

True (A)

What is the role of a Barr body in female cells?

To inactivate one of the two X chromosomes.

In heterozygous female cats, 50% of the cells express the _____ allele, and 50% express the ____ allele, depending on which chromosome is active.

<p>orange, black</p> Signup and view all the answers

Match the following terms related to X-linked traits with their definitions:

<p>CVD = An X-linked recessive disorder Barr body = Inactive X chromosome in females X-linked recessive = Typically affects more males than females Heterozygous female = A female with two different alleles on her X chromosomes</p> Signup and view all the answers

What is the primary function of DNA?

<p>Carriage of genetic information (C)</p> Signup and view all the answers

An individual that is homozygous for a gene has two different alleles for that gene.

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

What is a Punnett Square used for?

<p>To predict the outcome of a breeding experiment.</p> Signup and view all the answers

The observable physical characteristics of an organism are referred to as __________.

<p>phenotype</p> Signup and view all the answers

Match the following terms with their definitions:

<p>Gene = A unit of heredity transferred from parent to offspring Allele = Alternative forms of a gene Chromosome = Structure carrying genetic material Genotype = The genetic constitution of an individual</p> Signup and view all the answers

Which law states that alleles of two or more different genes get sorted into gametes independently?

<p>Law of Independent Assortment (D)</p> Signup and view all the answers

Recessive alleles are expressed in the phenotype when dominant alleles are present.

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

What determines whether an organism is homozygous or heterozygous?

<p>The alleles for a particular gene.</p> Signup and view all the answers

What term describes the inheritance pattern where a gene is located on a sex chromosome?

<p>Sex-linked Inheritance (C)</p> Signup and view all the answers

Incomplete dominance results in a phenotype that is a blend of two alleles.

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

What is the significance of crossing over during meiosis?

<p>It introduces genetic variation in offspring.</p> Signup and view all the answers

During __________ I, homologous chromosomes separate and move toward opposite poles.

<p>Anaphase</p> Signup and view all the answers

Match each term with its definition.

<p>Diploid = Cells containing two sets of chromosomes Haploid = Cells containing one set of chromosomes Somatic cells = Body cells excluding gametes Karyotype = Arrangement of an individual's chromosomes</p> Signup and view all the answers

Which stage of the cell cycle involves the division of the nucleus?

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

Homologous chromosomes have different genes at the same locations.

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

What is produced at the end of telophase II in meiosis?

<p>Four haploid daughter cells</p> Signup and view all the answers

The genetic material of an organism is made up of __________.

<p>DNA</p> Signup and view all the answers

Which of the following best describes trisomy?

<p>Having three copies of a chromosome (B)</p> Signup and view all the answers

The human diploid number is 2n = 46.

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

Which molecules are the building blocks of DNA?

<p>Nucleotides</p> Signup and view all the answers

A __________ involves the fusion of a male and female gamete to form a zygote.

<p>fertilization</p> Signup and view all the answers

Match the stages of meiosis with their correct descriptions.

<p>Prophase I = Homologous chromosomes pair and exchange genetic material Metaphase I = Homologous chromosomes align at the cell's equator Anaphase II = Sister chromatids separate to opposite poles Telophase I = Formation of two new cells with half the chromosome number</p> Signup and view all the answers

What is a pedigree used for?

<p>To document inheritance patterns of traits in a family (C)</p> Signup and view all the answers

An autosomal dominant disorder can skip generations.

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

What are the two types of autosomal disorders?

<p>Autosomal dominant and autosomal recessive</p> Signup and view all the answers

The flow chart that shows inheritance patterns over generations is called a ______.

<p>pedigree</p> Signup and view all the answers

Match the following inheritance patterns with their characteristics:

<p>Autosomal Dominant = Requires only one copy of the allele to be affected Autosomal Recessive = Requires two copies of the allele to be affected X-linked Recessive = Affected males pass the allele to all daughters Incomplete Dominance = Heterozygotes show a blend of both phenotypes</p> Signup and view all the answers

Which of the following disorders is an example of an X-linked recessive disorder?

<p>Duchenne muscular dystrophy (B)</p> Signup and view all the answers

Polygenic inheritance results in traits with distinct categories.

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

What is the significance of using superscripts in inheritance patterns?

<p>Superscripts indicate alleles that demonstrate codominance or incomplete dominance.</p> Signup and view all the answers

Traits located on the X or Y chromosome are referred to as ______ traits.

<p>sex-linked</p> Signup and view all the answers

What type of testing looks for abnormalities in enzymes and proteins?

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

Sickle cell anemia demonstrates incomplete dominance.

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

What does crossing over during meiosis do for linked genes?

<p>It can unlink genes on the same chromosome.</p> Signup and view all the answers

The trait for red-green color vision deficiency is an example of a(n) ______ disorder.

<p>X-linked recessive</p> Signup and view all the answers

What is the F1 generation in a classical genetics cross?

<p>First generation of offspring (C)</p> Signup and view all the answers

What is produced as a result of genetic reduction during meiosis?

<p>Daughter cells with half the number of chromosomes of the parent cell (C)</p> Signup and view all the answers

Crossing over occurs during prophase II.

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

Which process produces sperm cells in male animals?

<p>Spermatogenesis</p> Signup and view all the answers

During meiosis II, sister chromatids are separated during __________.

<p>anaphase II</p> Signup and view all the answers

Match the genetic conditions with their causes:

<p>Down Syndrome = Trisomy 21 Turner Syndrome = Monosomy X Cri du Chat Syndrome = Deletion of a chromosome section Charcot-Marie-Tooth disease = Duplication of a chromosome section</p> Signup and view all the answers

What is one way genetic variation occurs during meiosis?

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

All gametes produced during meiosis have the same combination of alleles.

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

What happens during telophase I of meiosis?

<p>Nuclear membrane forms around each group of chromosomes</p> Signup and view all the answers

The technique of __________ involves taking a sample of amniotic fluid to test for genetic disorders.

<p>amniocentesis</p> Signup and view all the answers

Match reproductive technologies with their procedures:

<p>In vitro fertilization = Harvesting eggs and joining them with sperm in a lab Artificial insemination = Introducing sperm into the reproductive tract Pre-implantation genetic diagnosis = Testing an embryo for genetic disorders Cloning = Making identical copies of an organism</p> Signup and view all the answers

What is a common outcome of non-disjunction during meiosis?

<p>Gametes with too many or too few chromosomes (C)</p> Signup and view all the answers

The process of artificial insemination is only applicable to human reproductive technologies.

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

What is genetic recombination?

<p>The process by which the products of meiosis have different combinations of alleles.</p> Signup and view all the answers

Gametes formed through meiosis are __________ cells.

<p>haploid</p> Signup and view all the answers

Match the process with its description:

<p>Spermatogenesis = Production of sperm cells Oogenesis = Production of egg cells Crossing over = Exchange of genetic material between homologous chromosomes Selective breeding = Breeding for desirable traits</p> Signup and view all the answers

What is one application of genetically modified organisms (GMOs) in plants?

<p>Increasing nutritional value (B)</p> Signup and view all the answers

Transgenic animals cannot be modified to produce human proteins.

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

What percentage chance is there for a specific allele to be passed on to a gamete?

<p>50%</p> Signup and view all the answers

The dominant allele for yellow pea seeds is represented by the letter ______.

<p>Y</p> Signup and view all the answers

Match the Mendelian laws of inheritance to their descriptions:

<p>Law of Segregation = Alleles separate during gamete formation Law of Dominance = Dominant allele masks recessive allele Law of Independent Assortment = Genes for different traits assort independently</p> Signup and view all the answers

What is a common concern related to herbicide-resistant plants?

<p>Development of super-weeds (A)</p> Signup and view all the answers

Mendel's experiments showed a consistent phenotypic ratio of 9:3:3:1 in all crosses.

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

What term describes the physical expression of an organism's genotype?

<p>phenotype</p> Signup and view all the answers

When two heterozygous plants are crossed, the expected phenotypic ratio for a single trait is ______.

<p>3:1</p> Signup and view all the answers

Match the following traits with their dominant characteristics in pea plants:

<p>Stem length = Tall Pod shape = Inflated Seed color = Yellow Flower color = Purple</p> Signup and view all the answers

What is a potential drawback of genetic modification in agriculture?

<p>Public skepticism and concern (A)</p> Signup and view all the answers

Mendel believed that traits are inherited independently from one another.

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

What is the relationship between chromosomes and genes according to the Chromosome Theory of Inheritance?

<p>Genes are carried on chromosomes.</p> Signup and view all the answers

In Mendelian genetics, a test cross involves crossing an individual with an unknown genotype with one that is ______.

<p>homozygous recessive</p> Signup and view all the answers

Flashcards

Gene

A unit of heredity determining characteristics passed from parents to offspring.

Chromosome

A thread-like structure in a cell's nucleus carrying genetic information (genes).

DNA

The molecule that carries genetic information and makes up chromosomes in most living organisms.

Allele

One version of a gene, arising through mutation, found at the same location on a chromosome.

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Homozygous

Having two identical alleles for a particular gene.

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Heterozygous

Having two different alleles for a particular gene.

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Dominance

One allele masking the expression of another allele.

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Recessiveness

An allele's expression is masked by a dominant allele, only showing up if both alleles are recessive.

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Sex-linked Inheritance

A trait's inheritance pattern determined by genes located on sex chromosomes, typically the X chromosome, resulting in different inheritance patterns in males and females.

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Incomplete Dominance

A genetic pattern where one allele isn't completely dominant over another, producing an intermediate phenotype.

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Homologous Chromosomes

Chromosome pairs with the same genes at the same locations, but possibly different alleles (versions of the gene).

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Meiosis

Cell division process reducing chromosome number by half to form gametes (sperm or egg).

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Haploid

Having half the usual number of chromosomes, like in gametes.

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Diploid

Having the full set of chromosomes, normal body cells.

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Trisomy

Genetic condition with an extra copy of a chromosome.

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Monosomy

Genetic condition with missing chromosome.

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Prophase I

The first stage of meiosis I where homologous chromosomes pair up and exchange genetic material.

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Crossing Over

The exchange of genetic material between homologous chromosomes during meiosis, leading to genetic variation.

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Gametes

Reproductive cells (sperm and egg) that contain half the number of chromosomes.

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Zygote

A fertilized egg, containing the full set of chromosomes received from parent cells.

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Karyotype

A visual arrangement of an individual's chromosomes, showing their number, size, and structure.

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Genetic Reduction

During meiosis, the number of chromosomes is reduced by half, resulting in daughter cells with only one set of chromosomes.

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Genetic Recombination

Meiosis leads to the creation of genetically unique offspring by shuffling the alleles of the parent chromosomes.

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Synapsis

The pairing up of homologous chromosomes during prophase I of meiosis.

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Independent Assortment

The random orientation of homologous chromosomes during metaphase I, leading to various combinations of maternal and paternal chromosomes in gametes.

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Non-disjunction

The failure of homologous chromosomes or sister chromatids to separate properly during anaphase I or II, resulting in gametes with abnormal chromosome numbers.

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Down Syndrome

A condition caused by trisomy 21, meaning three copies of chromosome 21.

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Turner Syndrome

A condition caused by monosomy X, meaning only one copy of the X chromosome.

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Amniocentesis

A prenatal test that involves extracting amniotic fluid containing fetal cells to analyze for genetic abnormalities.

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Chorionic Villus Sampling (CVS)

A prenatal test where a sample of cells from the placenta (chorion) is taken to analyze for genetic abnormalities.

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Selective Breeding

A method of breeding plants or animals to select and enhance desirable traits.

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Artificial Insemination

The introduction of sperm into a female's reproductive tract, often using processed semen from selected males.

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Embryo Transfer

A technique where fertilized eggs are transferred into a recipient female, enabling the production and transport of embryos.

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Gregor Mendel

A scientist known for his groundbreaking work on inheritance patterns using pea plants.

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Dominant Allele

An allele that will always be expressed in the phenotype, regardless of the other allele present.

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Recessive Allele

An allele that is only expressed in the phenotype if two copies of it are present.

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Law of Segregation

States that during meiosis, the two alleles of a gene separate and are packaged into different gametes.

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Law of Dominance

Describes how one allele can mask the expression of another allele in a heterozygote.

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Law of Independent Assortment

States that the alleles of different genes segregate independently of one another during meiosis.

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Genotype

The genetic makeup of an individual, represented by the combination of alleles they possess.

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Phenotype

The observable characteristics of an individual, resulting from their genotype.

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Punnett Square

A grid used to predict the possible genotypes and phenotypes of offspring from a cross.

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Test Cross

A cross between an individual of unknown genotype and an individual that is homozygous recessive for the trait.

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Dihybrid Cross

A cross between two individuals that differ in two traits.

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Chromosome Theory of Inheritance

States that genes are located on chromosomes and that the behaviour of chromosomes during meiosis explains Mendel's laws of inheritance.

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Walter Sutton

A scientist who proposed the Chromosome Theory of Inheritance.

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Pedigree

A diagram used to trace inheritance patterns of traits within a family across generations, displaying relationships and phenotypes.

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Autosomal Inheritance

Inheritance of traits governed by genes on autosomes (chromosomes 1-22), excluding sex chromosomes.

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Autosomal Dominant Disorder

A genetic disorder where a single copy of the dominant disease-causing allele leads to the condition.

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Autosomal Recessive Disorder

A genetic disorder where two copies of the recessive disease-causing allele are needed for the condition to manifest.

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Fluorescence In Situ Hybridization (FISH)

A technique that uses fluorescent probes to detect specific DNA sequences in chromosomes, illuminating abnormalities.

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Multiple Alleles

When a trait is controlled by more than two alleles for one gene, leading to diverse phenotypes.

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Polygenic Inheritance

Inheritance of traits determined by multiple genes, leading to continuous variation in the phenotype.

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Linked Genes

Genes located on the same chromosome that are inherited together, deviating from independent assortment.

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X-Linked Recessive Disorder

A disorder passed on through the X chromosome, requiring two copies (for females) or one copy (for males) of the recessive allele for the condition to appear.

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Barr Body

A tightly condensed, inactive X chromosome found in the cells of females. This inactivation ensures that females only express one X chromosome's genes.

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Why are X-linked Recessive Disorders more common in males?

Males inherit only one X chromosome, so if they inherit a recessive allele on that X chromosome, they will express the disorder. Females have two X chromosomes, so they need two recessive alleles to express the disorder, making it less common.

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Heterozygous Females and X-linked Traits

Heterozygous females, carrying one dominant and one recessive allele for an X-linked trait, will exhibit a mosaic pattern. Some cells will express the dominant trait, while others will express the recessive trait.

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Coat Color in Cats

An example of X-linked inheritance. The alleles for black or orange coat color in cats are carried on the X chromosome. Heterozygous females exhibit a mosaic pattern, showcasing both black and orange patches due to random X inactivation.

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Study Notes

Genetics: Basic Concepts

  • Genetics: The scientific study of heredity and variation.
  • Gene: A unit of heredity determining a characteristic.
  • Chromosome: A thread-like structure of nucleic acids and protein carrying genetic information (genes).
  • DNA (Deoxyribonucleic acid): Self-replicating material, the main component of chromosomes, carrying genetic information.
  • Allele: One of two or more alternative forms of a gene arising by mutation.
  • Genotype: The genetic constitution of an individual (two alleles for a gene).
  • Phenotype: Observable traits of an organism (influenced by genotype and dominance).
  • Homozygous: Having two identical alleles.
  • Heterozygous: Having two different alleles.
  • Dominance: One allele masking the expression of another.
  • Recessivity: An allele's expression masked by a dominant allele.
  • Heredity: Passing traits from parents to offspring.
  • Punnett Square: A diagram used to predict outcomes of genetic crosses.

Mendel's Laws of Inheritance

  • Law of Segregation: Alleles separate during gamete formation.
  • Law of Independent Assortment: Alleles for different genes separate independently.
  • Law of Dominance: One allele can mask another in the phenotype.

Cell Division and Reproduction

  • Cell Theory: All living things are composed of cells; cells are the smallest unit of life; new cells arise only from pre-existing cells.
  • Cell Cycle: Interphase (growth/activity), Mitosis (nuclear division), and Cytokinesis (cytoplasm division).
  • Somatic cells: Body cells undergoing cell cycles.
  • Chromosomes: Humans have 23 pairs of chromosomes (22 autosomes, 1 sex chromosome pair).
  • Karyotype: An ordered display of chromosomes.
  • Sexual Reproduction: Fusion of male and female gametes (sperm and egg) creating a zygote.
  • Meiosis: Cell division producing haploid gametes (one set of chromosomes).
  • Meiosis I: Separation of homologous chromosomes.
  • Meiosis II: Separation of sister chromatids.
  • Crossing Over: Exchange of genetic material between homologous chromosomes (prophase I).
  • Independent Assortment (Meiosis): Random alignment of homologous chromosomes.
  • Haploid: One set of chromosomes (n).
  • Diploid: Two sets of chromosomes (2n).
  • Genetic Variation: Variations via independent assortment, crossing over.

Complex Patterns of Inheritance

  • Incomplete Dominance: Intermediate phenotype in heterozygotes.
  • Codominance: Both alleles fully expressed in heterozygotes.
  • Multiple Alleles: More than two alleles for a gene (e.g., blood type).
  • Polygenic Inheritance: Multiple genes influencing a trait (e.g., height, skin color).
  • Linked Genes: Genes on the same chromosome, not always inherited independently.
  • Sex-linked Inheritance: Traits carried on sex chromosomes (X or Y).
  • Barr Bodies: Inactive X chromosomes in females.

Genetic Testing and Applications

  • Prenatal Genetic Testing (e.g., Amniocentesis, CVS): Detecting genetic disorders in fetuses.
  • Karyotype: Visualizing chromosome structure.
  • Reproductive Strategies: Selective breeding, artificial insemination, embryo transfer, IVF, preimplantation genetic diagnosis (PGD).
  • Cloning: Gene cloning, therapeutic cloning, and reproductive cloning.
  • Transgenic Organisms: Genetically modified organisms (GMOs) for agricultural and medicinal purposes.

Human Genetic Disorders

  • Errors in Chromosome structure/number: Deletion, duplication, inversion, translocation.
  • Nondisjunction: Homologous chromosomes or sister chromatids fail to separate during meiosis leading to aneuploidy (ex. Trisomy 21, Monosomy X).
  • Pedigree Analysis: Visual representation of inheritance patterns in families.

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