Genetics: DNA, Genes, and Variation

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Questions and Answers

Match each term to its correct definition regarding genetic inheritance:

Homozygous = Having two identical alleles for a gene. Heterozygous = Having two different alleles for a gene. Genotype = The specific combination of alleles an individual possesses. Phenotype = The observable characteristics resulting from the genotype.

Match each type of chromosomal mutation with its description:

Klinefelter Syndrome = Presence of an extra X chromosome in males (XXY). Down Syndrome = Presence of an extra chromosome 21 (Trisomy 21). Turner Syndrome = Absence of one X chromosome in females (X0). Wild Type = No chromosomal Mutation

Match the following terms to their correct association with cell division:

Mitosis = Cell division resulting in two identical diploid daughter cells. Meiosis = Cell division resulting in four genetically different haploid daughter cells. Haploid = Having one set of chromosomes (n). Diploid = Having two sets of chromosomes (2n).

Match the following characteristics to the correct type of variation:

<p>Discrete Variation = Traits with distinct, non-overlapping categories. Continuous Variation = Traits with a range of values along a spectrum. Gene = A section of DNA that codes for a specific protein. Chromosome = A structure containing tightly coiled DNA.</p> Signup and view all the answers

Match the DNA bases to their complementary pairings:

<p>Adenine = Thymine Guanine = Cytosine Base Triplet = Codes for an amino acid. Codon = Another name for a base triplet, that codes for an amino acid.</p> Signup and view all the answers

Match the process with its description:

<p>Mitosis = Produces two identical diploid daughter cells. Meiosis = Produces four genetically diverse haploid daughter cells. Translation = Synthesizes a protein from mRNA. Transcription = Synthesizes mRNA from a DNA template.</p> Signup and view all the answers

Match the term to its definition in relation to inheritance:

<p>Allele = A variant form of a gene. Gene = A segment of DNA that codes for a protein. Locus = The specific location of a gene on a chromosome. F1 Generation = The first generation offspring of a cross.</p> Signup and view all the answers

Match the definition to the term:

<p>Pedigree = A chart showing the inheritance of traits across generations. Karyotype = A visual display of an individual's chromosomes. Autosomal = A trait or gene located on a non-sex chromosome. Sex-linked = A trait or gene located on a sex chromosome.</p> Signup and view all the answers

Match the syndromes with their chromosomal abnormality:

<p>Down Syndrome = Trisomy 21: An extra copy of chromosome 21. Klinefelter Syndrome = XXY: Males with an extra X chromosome. Turner Syndrome = X0: Females with a missing X chromosome. Metafemale = XXX: Metafemales have an extra X chromosome.</p> Signup and view all the answers

Match each term to its description within genetics:

<p>Homozygous = An individual with two identical alleles for a gene. Heterozygous = An individual with two different alleles for a gene. Dominant Allele = An allele that masks the effect of a recessive allele. Recessive Allele = An allele whose effect is masked by a dominant allele.</p> Signup and view all the answers

Match the characteristic to the appropriate cell division process:

<p>Mitosis = Used for growth and repair in somatic cells. Meiosis = Essential for sexual reproduction by producing gametes.</p> Signup and view all the answers

Match the definition with the appropriate genetic term:

<p>Gene = A section of DNA coding for a specific protein or function. Allele = A variant form of a gene. Chromosome = A structure made of DNA carrying genetic information. Genome = The complete set of genetic material in an organism.</p> Signup and view all the answers

Connect each concept with its description regarding genetic inheritance:

<p>Genotype = The specific set of genes an organism possesses. Phenotype = The observable traits resulting from the expression of genes. Homozygous Dominant = Having two copies of the dominant allele. Heterozygous = Having one dominant and one recessive allele.</p> Signup and view all the answers

Match the definition to the term about the function of cells:

<p>Haploid = Cells containing one set of chromosomes. Diploid = Cells containing two sets of chromosomes. Gametes = Haploid cells used in sexual reproduction. Somatic Cells = Diploid cells forming the body of an organism.</p> Signup and view all the answers

Match the role to the cell:

<p>Mitosis = Responsible for growth and repair of somatic cells. Meiosis = Responsible for producing genetic variation through gamete formation. Replication = Duplicates DNA before cell division to ensure genetic continuity. Mutation = Introduces genetic variation into DNA.</p> Signup and view all the answers

Match each type of inheritance with its description:

<p>Sex-Linked Trait = A trait determined by a gene located on a sex chromosome. Autosomal Trait = A trait determined by a gene located on a non-sex chromosome. Dominant Inheritance = Only one dominant allele is required for the phenotype to be expressed. Recessive Inheritance = Two recessive alleles are required for the phenotype to be expressed.</p> Signup and view all the answers

Match the following component to its description:

<p>Nucleotide = A building block of DNA, including a base, sugar, and phosphate. Codon = A sequence of three nucleotides that codes for an amino acid. Amino Acid = The unit of life, made up of base triplets. Protein = A macro-molecule composed of amino acids.</p> Signup and view all the answers

Match the description to the best genetic term:

<p>Homologous Chromosomes = Pairs of chromosomes with the same genes, one from each parent. Sister Chromatids = Two identical copies of a chromosome attached at the centromere. Centromere = The region where sister chromatids attach. DNA = Double helix made up of phosphate and deoxyribose sugar molecule.</p> Signup and view all the answers

Match the description to the type of mutation:

<p>Point Mutation = A change in a single base pair in DNA. Chromosomal Mutation = A change in the structure or number of chromosomes. DNA Mutation = The building blocks of proteins. Frameshift Mutation = Type of mutation where the reading frame of the genetic information is shifted.</p> Signup and view all the answers

Match the appropriate scientists with their contriutions:

<p>Watson and Crick = Discovered the double helix structure of DNA. Mendel = Formulated the basic principles of inheritance based on pea plant experiments. Darwin = Evolution. None = No scientists were mentioned in the text.</p> Signup and view all the answers

Flashcards

Discrete Variation

Single gene controls separate phenotype categories with no intermediary categories.

Continuous Variation

Gene controls phenotypes on a spectrum with varying degrees of expression.

DNA Bases

Adenine, thymine, cytosine, and guanine are the four bases that make up DNA. A-T, C-G.

Gene

A stretch of DNA that provides instructions to build a specific protein.

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Chromosome

The denser version of genes, formed when genes are coiled up before cell division.

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Karyotype

A complete set of chromosomes in a cell, arranged in pairs and ordered by size.

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Haploid Cells

Cells with one set of chromosomes (1n).

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Diploid Cells

Cells with two sets of chromosomes (2n).

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Mitosis

Cell division for growth, repair, maintenance, and regeneration.

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Meiosis

Cell division to produce gametes with ample genetic variation for sexual reproduction.

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Allele

A variation of a gene.

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Homozygous

Two identical alleles for a particular gene.

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Heterozygous

Two different alleles for a particular gene.

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Genotype

The type/combination of genes/alleles that a person has.

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Phenotype

The outward expression or appearance of a particular genotype.

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Pedigree

A chart showing the inheritance of specific genes throughout generations of a family.

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Autosomal Traits

Traits that are not sex-linked and are passed on through the first twenty two pairs of chromosomes.

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Mutation

Change in the DNA base sequence of a gene or changes to the structure and number of chromosomes.

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F1 Generation

First generation after crossing two parental organisms.

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Autosomal

Refers to a gene or trait found in the first 22 sets of chromosomes in humans.

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Study Notes

Introduction to Genetics

  • Discrete variation involves a single gene controlling distinct phenotypes with no intermediate categories.
    • Examples include having or not having dimples and the ability or inability to roll one's tongue.
  • Continuous variation involves a gene controlling phenotypes across a spectrum with varying degrees.
    • Height is an example.

DNA, Genes, and Chromosomes

  • DNA comprises four bases: adenine, thymine, cytosine, and guanine.
    • Complementary base pairings: cytosine and guanine (triple hydrogen bond), adenine and thymine (double hydrogen bond).
  • A gene is a DNA segment providing instructions for building a specific protein.
  • Chromosomes are condensed, coiled versions of genes, formed before cell division.
  • A codon, or base triplet, is a sequence of 3 DNA bases that codes for an amino acid.
  • A karyotype is a complete set of cell chromosomes, arranged in pairs and ordered by size.
    • Chromosomes are grouped in pairs based on size, centromere position, and banding patterns.
  • A normal human karyotype contains 46 chromosomes, or 23 pairs.
    • Females have an XX as their last pair.
    • Males have an XY as their last pair.

Mitosis and Meiosis

  • Haploid cells contain one set of chromosomes, while diploid cells contain two sets.
  • Mitosis replicates cells for growth, repair, maintenance, and regeneration.
  • Meiosis produces gametes, resulting in ample genetic variation and enabling sexual reproduction.
  • Mitosis involves one cell division, whereas meiosis involves two.
  • Mitosis produces two daughter cells, while meiosis produces four.
  • Human sperm and egg cells contain 23 chromosomes.
  • Sperm and ovum cells are produced in the gonads.

Inheritance

  • Allele: a variation of a gene.
  • Homozygous: having two identical alleles for a particular gene.
  • Heterozygous: having two different alleles for a particular gene.
  • Genotype: the specific combination of genes/alleles that a person has.
  • Phenotype: the outward expression or appearance of a particular genotype.
  • Pedigree: a chart showing the inheritance of specific genes across generations of a family.
  • Autosomal traits: traits not sex-linked, passed on through the first 22 chromosome pairs.

Punnett Squares

  • Punnett squares are used to predict the likelihood of offspring inheriting specific traits based on parental genotypes.

Chromosomal Mutations

  • Klinefelter Syndrome: individuals have an extra X chromosome (XXY).
  • Down Syndrome: individuals have an extra chromosome in their twenty-first set (trisomy 21).
  • Turner Syndrome: individuals have only one X chromosome (X).

Roan Coat Inheritance

  • The roan coat in some animals appears because both genes are codominant, equally contributing to the offspring's genotype and phenotype.

Definitions

  • Discrete variation: no spectrum of the gene, you either have it or you do not.
  • Continuous variation: a spectrum of the gene, you inherit a degree of it.
  • Gene: a length of DNA providing instructions to build a specific protein.
  • DNA: repeating molecules called nucleotides in a double helix with antiparallel orientation.
    • Nucleotides include a deoxyribose sugar, a phosphate molecule, and a base.
  • Protein: made of amino acids, coded for by base triplets.
    • Unique nucleotide combinations lead to specific protein expression.
  • Chromosome: a long, thread-like structure of DNA and proteins carrying genetic information.
  • Haploid cells: sex cells with one set of chromosomes (1n) after meiosis.
  • Diploid cells: autosomal cells with two sets of chromosomes (2n) after mitosis.
  • Mitosis: occurs in somatic cells for growth, repair, and regeneration - duplicating genetic information and creating identical diploid daughter cells.
  • Meiosis: occurs in diploid cells in the gonads for sexual reproduction, involving two cell divisions to produce four haploid daughter cells (gametes).
  • Pedigree: chart showing inheritance of specific genes throughout family generations.
  • Nucleotide: a structure within DNA made of a deoxyribose sugar molecule, a phosphate molecule, and a base from complementary base pairings.
  • Homologous chromosomes: chromosomes that are identical.
  • Mutation: changes in the DNA base sequence of a gene or changes to the structure and number of chromosomes.
    • Chromosomal mutations (nondisjunctions) happen during meiosis and are inherited.
    • Point mutations can be spontaneous or induced by the environment.
  • F1 generation: the first generation after crossing two parental organisms.
  • Autosomal: a gene or trait found in the first 22 sets of chromosomes in humans.
  • Sex-linked: a gene or trait only found on a particular sex chromosome.

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