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Questions and Answers
What is the chromosome theory of inheritance?
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.
Explain the law of segregation.
The law of segregation states that chromosomes are equally separated between haploid gametes.
Explain the law of independent assortment.
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?
What did Thomas Hunt Morgan use for his genetic studies? Why were these excellent test subjects?
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Express the notation for a female fruit fly homozygous for red eyes, heterozygous for red eyes, and homozygous for white eyes.
Express the notation for a female fruit fly homozygous for red eyes, heterozygous for red eyes, and homozygous for white eyes.
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What unusual result suggested that the eye color trait is located on the X chromosome for fruit flies?
What unusual result suggested that the eye color trait is located on the X chromosome for fruit flies?
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What are the many variations of sex determination for different species?
What are the many variations of sex determination for different species?
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What is the SRY gene? Where is it found and what does it do?
What is the SRY gene? Where is it found and what does it do?
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What is the definition of a sex-linked gene?
What is the definition of a sex-linked gene?
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In humans, how has the term sex-linked gene been historically modified?
In humans, how has the term sex-linked gene been historically modified?
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Name three sex-linked disorders.
Name three sex-linked disorders.
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What is Duchenne's muscular dystrophy?
What is Duchenne's muscular dystrophy?
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What is hemophilia?
What is hemophilia?
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What is a Barr body? Why do females show a Barr body in their cells?
What is a Barr body? Why do females show a Barr body in their cells?
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What does X inactivation do?
What does X inactivation do?
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How is the X chromosome in females inactivated?
How is the X chromosome in females inactivated?
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Why can you say that all calico cats are females?
Why can you say that all calico cats are females?
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What are linked genes? Do linked genes sort independently?
What are linked genes? Do linked genes sort independently?
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If two genes are linked on the same chromosome, what is this combination called?
If two genes are linked on the same chromosome, what is this combination called?
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What are the offspring called that display new combinations from crossing over?
What are the offspring called that display new combinations from crossing over?
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When does crossing over occur?
When does crossing over occur?
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Who is Alfred H. Sturtevant?
Who is Alfred H. Sturtevant?
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What is a linkage map?
What is a linkage map?
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What is a map unit?
What is a map unit?
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What occurs in nondisjunction?
What occurs in nondisjunction?
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Explain aneuploidy.
Explain aneuploidy.
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What is monosomy?
What is monosomy?
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What is trisomy?
What is trisomy?
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What is polyploidy?
What is polyploidy?
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What is Down syndrome? Symptoms? Inheritance?
What is Down syndrome? Symptoms? Inheritance?
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What is Klinefelter syndrome? Symptoms? Inheritance?
What is Klinefelter syndrome? Symptoms? Inheritance?
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What is Turner syndrome? Symptoms? Inheritance?
What is Turner syndrome? Symptoms? Inheritance?
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What is Cri du Chat? Symptoms? Inheritance?
What is Cri du Chat? Symptoms? Inheritance?
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What is Chronic Myelogenous Leukemia? Symptoms? Inheritance?
What is Chronic Myelogenous Leukemia? Symptoms? Inheritance?
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What results from the genotype 'XXY'?
What results from the genotype 'XXY'?
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What results from the genotype 'XXX'?
What results from the genotype 'XXX'?
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What results from the genotype 'XO'?
What results from the genotype 'XO'?
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What results from the genotype 'XYY'?
What results from the genotype 'XYY'?
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What happens in a deletion?
What happens in a deletion?
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What happens in a duplication?
What happens in a duplication?
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What happens in an inversion?
What happens in an inversion?
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What happens in a translocation?
What happens in a translocation?
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What is genomic imprinting?
What is genomic imprinting?
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What group of genes have you inherited only from your mother?
What group of genes have you inherited only from your mother?
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What are some diseases carried through mitochondrial DNA?
What are some diseases carried through mitochondrial DNA?
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Why are extranuclear genes inherited maternally?
Why are extranuclear genes inherited maternally?
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Study Notes
Chromosomal Basis of Inheritance
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Chromosome Theory of Inheritance: Mendelian genes have fixed locations (loci) on chromosomes, which segregate and assort independently during inheritance.
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Law of Segregation: Chromosomes are distributed equally to haploid gametes during reproduction, ensuring genetic diversity.
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Law of Independent Assortment: Traits are inherited independently; alleles of different genes segregate into gametes without influencing one another.
Genetic Studies and Model Organisms
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Thomas Hunt Morgan's Work: Utilized fruit flies (Drosophila melanogaster) due to rapid reproduction, low cost, and manageable chromosome number (four chromosomes).
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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
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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.
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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
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Definition of Sex-Linked Genes: Genes found on sex chromosomes; most often refers to genes on the X chromosome.
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Examples of Sex-Linked Disorders: Duchenne muscular dystrophy, hemophilia, colorblindness.
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Duchenne Muscular Dystrophy: Characterized by muscle weakening and coordination loss, often fatal by early adulthood. Caused by lack of dystrophin protein.
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Hemophilia: An X-linked recessive disorder that leads to difficulty in blood clotting, historically associated with royal families.
X Chromosome Inactivation
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Barr Body: An inactive X chromosome found in females, which condenses to ensure dosage equality of X-linked genes.
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Process of X Inactivation: The inactive X chromosome is methylated, resulting in the formation of a Barr body during early embryonic development.
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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
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Linked Genes: Genes that are physically close on the same chromosome; tend to be inherited together rather than assorting independently.
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Parental Combination: Refers to the combination of linked genes that are inherited without recombination.
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Recombinants: Offspring that exhibit new genetic combinations due to crossing over during prophase I of meiosis.
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Alfred H. Sturtevant: A student of Morgan who created linkage maps based on recombination frequencies to estimate gene locations on chromosomes.
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Linkage Map: A representation showing the relative positions of genes based on recombination frequencies; measured in map units.
Chromosomal Abnormalities
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Nondisjunction: Failure of homologous chromosomes or sister chromatids to separate properly during cell division, causing aneuploidy.
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Aneuploidy: An abnormal number of chromosomes in a zygote, resulting from nondisjunction events.
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Monosomy: Condition where a cell is missing one chromosome; e.g., Turner syndrome.
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Trisomy: Presence of an extra chromosome; e.g., Down syndrome (trisomy 21).
Syndromes and Genetic Disorders
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Down Syndrome: Result of having an extra 21st chromosome, characterized by intellectual disabilities, unique facial features, and various health issues.
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Klinefelter Syndrome: Males with an extra X chromosome leading to various physical and developmental issues.
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Turner Syndrome: Female condition with a single X chromosome, often resulting in several physical abnormalities and infertility.
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Cri du Chat Syndrome: Deletion on chromosome 5, resulting in characteristic crying, small head, and developmental delays.
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Chronic Myelogenous Leukemia: Result of genetic mutations involving chromosomes 9 and 22, characterized by overproduction of white blood cells.
Genetic Alterations and Imprinting
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Genomic Imprinting: A process where only one allele of an imprinted gene is expressed depending on parental origin, affecting gene expression patterns.
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Extranuclear Genes: Genes inherited exclusively from the mother, such as mitochondrial DNA, passed from the egg cytoplasm.
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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
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Chromosomal Deletion: Loss of a chromosomal fragment, potentially leading to loss of gene function.
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Chromosomal Duplication: Addition of an extra gene, which may disrupt normal function and lead to disease.
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Chromosomal Inversion: Reversal of the gene order on a chromosome, possibly impacting gene expression.
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Chromosomal Translocation: A chromosomal segment breaks off and attaches to a non-homologous chromosome, leading to genetic imbalances.
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Description
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.