Chromosomal Basis of Inheritance Quiz
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Questions and Answers

What is the chromosome theory of inheritance?

Mendelian genes have specific loci along chromosomes. Chromosomes undergo segregation and independent assortment.

Explain the law of segregation.

The law of segregation states that chromosomes are equally separated between haploid gametes.

Explain the law of independent assortment.

The inheritance of one trait is independent from the inheritance of another trait. Alleles are inherited and segregated independently.

What did Thomas Hunt Morgan use for his genetic studies? Why were these excellent test subjects?

<p>He used fruit flies, aka Drosophila melanogaster, which reproduce quickly, are inexpensive, and have only 4 chromosomes.</p> Signup and view all the answers

Express the notation for a female fruit fly homozygous for red eyes, heterozygous for red eyes, and homozygous for white eyes.

<p>Xw+ Xw+, Xw+ Xw, Xw Xw</p> Signup and view all the answers

What unusual result suggested that the eye color trait is located on the X chromosome for fruit flies?

<p>There was a higher prevalence of males with white eyes than females with white eyes.</p> Signup and view all the answers

What are the many variations of sex determination for different species?

<p>X-Y system in mammals, Z-W system in birds, X-O system in grasshoppers, and haplo-diploid system in bees and ants.</p> Signup and view all the answers

What is the SRY gene? Where is it found and what does it do?

<p>The SRY gene, or Sex Determining Region of Y, is found on the Y chromosome and codes for testes formation.</p> Signup and view all the answers

What is the definition of a sex-linked gene?

<p>A gene located on either sex chromosome.</p> Signup and view all the answers

In humans, how has the term sex-linked gene been historically modified?

<p>The term generally means that the disease is carried on the X chromosome.</p> Signup and view all the answers

Name three sex-linked disorders.

<p>Duchenne's muscular dystrophy, hemophilia, and colorblindness.</p> Signup and view all the answers

What is Duchenne's muscular dystrophy?

<p>It is a progressive weakening of muscles and loss of coordination, caused by the absence of a muscle protein called dystrophin.</p> Signup and view all the answers

What is hemophilia?

<p>An X-linked recessive disorder caused by the absence of the proteins required for blood clotting.</p> Signup and view all the answers

What is a Barr body? Why do females show a Barr body in their cells?

<p>A Barr body is an inactive X chromosome that has condensed. Females have one X chromosome that becomes inactive.</p> Signup and view all the answers

What does X inactivation do?

<p>It maintains the proper gene dosage.</p> Signup and view all the answers

How is the X chromosome in females inactivated?

<p>Methyl groups (-CH3) attach to the nitrogenous bases of the DNA, leading to one X chromosome becoming a Barr body.</p> Signup and view all the answers

Why can you say that all calico cats are females?

<p>Color for cats is on the X chromosome, and calico coloring results from a combination of black and orange alleles.</p> Signup and view all the answers

What are linked genes? Do linked genes sort independently?

<p>Linked genes are genes that are close together on the same chromosome and tend to be inherited together. They do not sort independently.</p> Signup and view all the answers

If two genes are linked on the same chromosome, what is this combination called?

<p>The parental combination.</p> Signup and view all the answers

What are the offspring called that display new combinations from crossing over?

<p>Recombinants or recombinant types.</p> Signup and view all the answers

When does crossing over occur?

<p>During prophase I of meiosis.</p> Signup and view all the answers

Who is Alfred H. Sturtevant?

<p>A student of Thomas Hunt Morgan who used assumptions from observations of crossovers to map genes.</p> Signup and view all the answers

What is a linkage map?

<p>A linkage map uses recombination frequencies to estimate locations of genes on a chromosome in relation to one another.</p> Signup and view all the answers

What is a map unit?

<p>1 map unit = 1% recombination frequency.</p> Signup and view all the answers

What occurs in nondisjunction?

<p>Homologous chromosomes or sister chromatids fail to separate in cell division, resulting in gametes with incorrect chromosome counts.</p> Signup and view all the answers

Explain aneuploidy.

<p>Aneuploidy refers to an incorrect number of chromosomes in a fertilized zygote, resulting from nondisjunction.</p> Signup and view all the answers

What is monosomy?

<p>When a cell is missing a chromosome, resulting in a total of 1 chromosome instead of 2.</p> Signup and view all the answers

What is trisomy?

<p>When a cell has an extra chromosome, resulting in a total of 3 chromosomes instead of 2.</p> Signup and view all the answers

What is polyploidy?

<p>Having three or four chromosomal sets, which is more common in plants than in animals.</p> Signup and view all the answers

What is Down syndrome? Symptoms? Inheritance?

<p>A disease caused by a third 21st chromosome (trisomy 21), causing intellectual deficits and physical changes.</p> Signup and view all the answers

What is Klinefelter syndrome? Symptoms? Inheritance?

<p>A boy born with an extra X chromosome, symptoms may include small testicles and delayed puberty.</p> Signup and view all the answers

What is Turner syndrome? Symptoms? Inheritance?

<p>When a woman only has one X chromosome, symptoms may include short stature and difficulty conceiving.</p> Signup and view all the answers

What is Cri du Chat? Symptoms? Inheritance?

<p>A disease occurring when a portion of the 5th chromosome is missing, causing a cat-like cry and small size at birth.</p> Signup and view all the answers

What is Chronic Myelogenous Leukemia? Symptoms? Inheritance?

<p>A mutation of chromosomes 9 and 22, causing uncontrolled blood cell growth and symptoms like fatigue and easy bleeding.</p> Signup and view all the answers

What results from the genotype 'XXY'?

<p>A male with Klinefelter syndrome, symptoms include small testes and enlarged breast tissue.</p> Signup and view all the answers

What results from the genotype 'XXX'?

<p>A female with trisomy X, symptoms may include being slightly taller than average.</p> Signup and view all the answers

What results from the genotype 'XO'?

<p>A female with Turner syndrome, symptoms include infertility and undeveloped sexual organs.</p> Signup and view all the answers

What results from the genotype 'XYY'?

<p>A male that may not undergo normal sexual development and is generally taller than average.</p> Signup and view all the answers

What happens in a deletion?

<p>A chromosomal fragment is lost.</p> Signup and view all the answers

What happens in a duplication?

<p>An extra gene is added.</p> Signup and view all the answers

What happens in an inversion?

<p>The order of genes is reversed.</p> Signup and view all the answers

What happens in a translocation?

<p>A portion of the lost fragment joins a non-homologous chromosome.</p> Signup and view all the answers

What is genomic imprinting?

<p>A zygote expresses only one allele of an imprinted gene depending on which parent passed the allele.</p> Signup and view all the answers

What group of genes have you inherited only from your mother?

<p>Mitochondrial DNA or extranuclear genes.</p> Signup and view all the answers

What are some diseases carried through mitochondrial DNA?

<p>Defects in ATP synthase proteins, mitochondrial myopathy, and Leber's hereditary optic neuropathy.</p> Signup and view all the answers

Why are extranuclear genes inherited maternally?

<p>The zygote's cytoplasm comes from the egg (female).</p> Signup and view all the answers

Study Notes

Chromosomal Basis of Inheritance

  • Chromosome Theory of Inheritance: Mendelian genes have fixed locations (loci) on chromosomes, which segregate and assort independently during inheritance.

  • Law of Segregation: Chromosomes are distributed equally to haploid gametes during reproduction, ensuring genetic diversity.

  • Law of Independent Assortment: Traits are inherited independently; alleles of different genes segregate into gametes without influencing one another.

Genetic Studies and Model Organisms

  • Thomas Hunt Morgan's Work: Utilized fruit flies (Drosophila melanogaster) due to rapid reproduction, low cost, and manageable chromosome number (four chromosomes).

  • Eye Color in Fruit Flies: Higher incidence of white-eyed males than females indicated that the gene for eye color is located on the X chromosome.

Sex Determination Systems

  • Various Sex Determination Systems: Include X-Y system in mammals, Z-W system in birds, X-O system in some insects, and haplo-diploid system in bees and ants.

  • SRY Gene: Located on the Y chromosome, this gene is crucial for the development of testes and male sexual characteristics.

Sex-Linked Genes and Disorders

  • Definition of Sex-Linked Genes: Genes found on sex chromosomes; most often refers to genes on the X chromosome.

  • Examples of Sex-Linked Disorders: Duchenne muscular dystrophy, hemophilia, colorblindness.

  • Duchenne Muscular Dystrophy: Characterized by muscle weakening and coordination loss, often fatal by early adulthood. Caused by lack of dystrophin protein.

  • Hemophilia: An X-linked recessive disorder that leads to difficulty in blood clotting, historically associated with royal families.

X Chromosome Inactivation

  • Barr Body: An inactive X chromosome found in females, which condenses to ensure dosage equality of X-linked genes.

  • Process of X Inactivation: The inactive X chromosome is methylated, resulting in the formation of a Barr body during early embryonic development.

  • Calico Cats: Female cats inherit one X chromosome with an allele for black and one for orange fur, leading to a tortoiseshell pattern.

Linked Genes and Genetic Mapping

  • Linked Genes: Genes that are physically close on the same chromosome; tend to be inherited together rather than assorting independently.

  • Parental Combination: Refers to the combination of linked genes that are inherited without recombination.

  • Recombinants: Offspring that exhibit new genetic combinations due to crossing over during prophase I of meiosis.

  • Alfred H. Sturtevant: A student of Morgan who created linkage maps based on recombination frequencies to estimate gene locations on chromosomes.

  • Linkage Map: A representation showing the relative positions of genes based on recombination frequencies; measured in map units.

Chromosomal Abnormalities

  • Nondisjunction: Failure of homologous chromosomes or sister chromatids to separate properly during cell division, causing aneuploidy.

  • Aneuploidy: An abnormal number of chromosomes in a zygote, resulting from nondisjunction events.

  • Monosomy: Condition where a cell is missing one chromosome; e.g., Turner syndrome.

  • Trisomy: Presence of an extra chromosome; e.g., Down syndrome (trisomy 21).

Syndromes and Genetic Disorders

  • Down Syndrome: Result of having an extra 21st chromosome, characterized by intellectual disabilities, unique facial features, and various health issues.

  • Klinefelter Syndrome: Males with an extra X chromosome leading to various physical and developmental issues.

  • Turner Syndrome: Female condition with a single X chromosome, often resulting in several physical abnormalities and infertility.

  • Cri du Chat Syndrome: Deletion on chromosome 5, resulting in characteristic crying, small head, and developmental delays.

  • Chronic Myelogenous Leukemia: Result of genetic mutations involving chromosomes 9 and 22, characterized by overproduction of white blood cells.

Genetic Alterations and Imprinting

  • Genomic Imprinting: A process where only one allele of an imprinted gene is expressed depending on parental origin, affecting gene expression patterns.

  • Extranuclear Genes: Genes inherited exclusively from the mother, such as mitochondrial DNA, passed from the egg cytoplasm.

  • Diseases from Mitochondrial DNA: Include mitochondrial myopathy and Leber's hereditary optic neuropathy, affecting energy production and leading to muscle and vision problems respectively.

Mechanisms of Chromosomal Changes

  • Chromosomal Deletion: Loss of a chromosomal fragment, potentially leading to loss of gene function.

  • Chromosomal Duplication: Addition of an extra gene, which may disrupt normal function and lead to disease.

  • Chromosomal Inversion: Reversal of the gene order on a chromosome, possibly impacting gene expression.

  • Chromosomal Translocation: A chromosomal segment breaks off and attaches to a non-homologous chromosome, leading to genetic imbalances.

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Test your knowledge on the chromosomal basis of inheritance, including Mendelian genetics concepts like the laws of segregation and independent assortment. Explore the significance of model organisms in genetic studies and the various sex determination systems observed across species.

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