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Unit 15: Transmission of genetic information

  • Inheritance: the acquisition of traits by their parent to offspring

  • There is evidence for particulate inheritance

    • determines heredity traits are transmitted in particles from generation to generation

  • Gene: unit of heredity

15.1 Mendel’s Laws of Inheritance

  • Gregor Mendel studied Pea plants, discovered hybrids

The common garden pea

  • Genetic variation

    • peas have many varieties, which differ in characteristics

      • called characters

    • Each character has differing forms known as variants

    • Traits are identifiable characteristics of an organism

  • Self fertilization

    • female gamete is fertilized by a male gamete from the same plant

    • makes it easier to produce plants with a certain trait

      • true breeding line/strain: when lineage of plants exhibit the same trait after generations of self-breeding

  • Hybridization

    • Mendel wanted to breed hybrids via hybridization

      • occurs via cross-fertilized experiments

Mendel’s Law of Segregation

  • Single factor cross: when experimenter followed variants of one character

  • P generation: parental generation

  • F1 generation: offspring generation

  • When parents differ in a single characteristic, offspring is called monohybrid

  • Three important ideas about traits

    • traits may exist in two forms: dominant and recessive

    • individuals carry two genes for a given character

    • two alleles separate during gamete formation

  • Dominant and recessive traits

    • dominant refers to displayed traits, recessive refers to hidden traits

  • Genes and alleles

    • genetic determinants of traits are unit factors passed from generation to generation

  • Segregation of alleles

    • Mendel’s law of segregation: states that two alleles of the same gene separate from each other

Genotype and Phenotype

  • Genotype: the genetic composition

  • Phenotype: characteristics that appear due expression of genes

  • Homozygous: an individual that carries identical copies of an allele

    • Can be homozygous recessive or homozygous dominant

  • heterozygous: carries different allele of a gene

    • So both recessive and dominant

Inheritance pattern

  • Two-factor cross: when experimenter follows inheritance of two characteristics

  • Two possible patterns

    • genes are linked in some way, so variants occur in a unit

    • transmission of genes may be independent, alleles are passed randomly

  • Dihybrids: organisms that express big traits

    • led to Mendel’s law of independent assortment

      • alleles sort independently of each other

15.2 Chromosome Theory of Inheritance

  • Modern version of chromosome theory of inheritance follows

    • chromosomes contain DNA, genes found in chromosomes

    • chromosomes are replicated and passed to offspring

    • nucleus of diploid cell contain two sets of chromosomes

    • meiosis lets homozygous pairs separated from each other

    • gametes are haploid cells

Segregation of homologous chromosomes during meiosis

  • lows: physical location of a gene

  • when a cell prepares to divide, homologs replicate forming sister chromatids

    • each chromatid carries one of the alleles

  • when meiosis II occurs sister chromatids separate into haploid cells

    • so each haploid cell has one copy of the two original alleles

Mendel’s Law of Independent Assortment

  • During Metaphase I, two pairs of chromosomes randomly align on metaphase plate, which leads to random genes paired with each other

    • this is independent assortment

15.3 Pedigree Analysis of Human Traits

  • How geneticists track genetic diseases in humans

    • Morally wrong to breed humans against their will to see whether genetic traits are recessive or dominant

  • Diseases can be from mutations or form the wild type allele

    • The most common phenotype in an population

15.4 Variations in Inheritance patters and their molecular phases

  • Mendelian Inheritance: inheritance patterns of genes that segregate and assort independently

  • Simple Mendelian Inheritance: Single gene that has two variants controlled by dominant and recessive traits

Protein function explains dominance traits

  • Loss of function alleles: mutations that produce recessive alleles more likely decrease protein function

  • In simple dominant recessive relationship, dominant/wildtype allele can suppress it

  • Not all recessive alleles are harmful to phenotype

  • Pedigree analysis: studying human genetics through family tree

  • used to understand human genetic diseases

  • Genes exist in two different forms

    • wild type allele: the most common allele in a population

    • mutant allele: some people inherit diseases, not as likely to occur

Recessive alleles that cause diseases affect phenotype

  • Pleiotropy: mutation in a single gene has multiple effects on phenotype

  • occurs for three different reasons

    • expression could affect cell function in more than one way

    • May be expressed in different cell types

    • may be expressed in different stages

  • often times, expression of genes are pleiotropic

Incomplete Dominance results in intermediate phenotype

  • Intermediate dominance: two dominant genes compete, meet halfway in phenotype

Environment affects phenotype

  • Norm of reaction: phenotype range that shows in a certain environment

15.5 Sex Chromosomes & X-linked inheritance patterns

Sex Chromosomes are due to presence of sex chromosomes

  • Several mechanisms determination have been found in different species of animals

    • XY system

      • the one found in humans

        • males are xy, females xx

    • XO System

      • occurs in some insects

      • presence of Y doesn’t mean male

      • gender depends on ratio of X to Y

        • less X chromosomes means male

    • ZW System

      • birds and fish

      • males are ZZ, female are ZW

    • Haplodiploid System

      • found in bees

        • makes come from unfertilized eggs

          • are haploid due to half chromosomes

    • Environmental systems

      • in certain reptiles and fish, gender is controlled by environmental factors

In humans X linked recessive traits are more likely to occur

  • X chromosomes are larger and carry more protein coding genes than Y chromosomes

  • X-Linked genes: genes found in X-chromosome only

  • Sex-linked gene: genes that are only found in one chromosome, not the other

Y

Unit 15: Transmission of genetic information

  • Inheritance: the acquisition of traits by their parent to offspring

  • There is evidence for particulate inheritance

    • determines heredity traits are transmitted in particles from generation to generation

  • Gene: unit of heredity

15.1 Mendel’s Laws of Inheritance

  • Gregor Mendel studied Pea plants, discovered hybrids

The common garden pea

  • Genetic variation

    • peas have many varieties, which differ in characteristics

      • called characters

    • Each character has differing forms known as variants

    • Traits are identifiable characteristics of an organism

  • Self fertilization

    • female gamete is fertilized by a male gamete from the same plant

    • makes it easier to produce plants with a certain trait

      • true breeding line/strain: when lineage of plants exhibit the same trait after generations of self-breeding

  • Hybridization

    • Mendel wanted to breed hybrids via hybridization

      • occurs via cross-fertilized experiments

Mendel’s Law of Segregation

  • Single factor cross: when experimenter followed variants of one character

  • P generation: parental generation

  • F1 generation: offspring generation

  • When parents differ in a single characteristic, offspring is called monohybrid

  • Three important ideas about traits

    • traits may exist in two forms: dominant and recessive

    • individuals carry two genes for a given character

    • two alleles separate during gamete formation

  • Dominant and recessive traits

    • dominant refers to displayed traits, recessive refers to hidden traits

  • Genes and alleles

    • genetic determinants of traits are unit factors passed from generation to generation

  • Segregation of alleles

    • Mendel’s law of segregation: states that two alleles of the same gene separate from each other

Genotype and Phenotype

  • Genotype: the genetic composition

  • Phenotype: characteristics that appear due expression of genes

  • Homozygous: an individual that carries identical copies of an allele

    • Can be homozygous recessive or homozygous dominant

  • heterozygous: carries different allele of a gene

    • So both recessive and dominant

Inheritance pattern

  • Two-factor cross: when experimenter follows inheritance of two characteristics

  • Two possible patterns

    • genes are linked in some way, so variants occur in a unit

    • transmission of genes may be independent, alleles are passed randomly

  • Dihybrids: organisms that express big traits

    • led to Mendel’s law of independent assortment

      • alleles sort independently of each other

15.2 Chromosome Theory of Inheritance

  • Modern version of chromosome theory of inheritance follows

    • chromosomes contain DNA, genes found in chromosomes

    • chromosomes are replicated and passed to offspring

    • nucleus of diploid cell contain two sets of chromosomes

    • meiosis lets homozygous pairs separated from each other

    • gametes are haploid cells

Segregation of homologous chromosomes during meiosis

  • lows: physical location of a gene

  • when a cell prepares to divide, homologs replicate forming sister chromatids

    • each chromatid carries one of the alleles

  • when meiosis II occurs sister chromatids separate into haploid cells

    • so each haploid cell has one copy of the two original alleles

Mendel’s Law of Independent Assortment

  • During Metaphase I, two pairs of chromosomes randomly align on metaphase plate, which leads to random genes paired with each other

    • this is independent assortment

15.3 Pedigree Analysis of Human Traits

  • How geneticists track genetic diseases in humans

    • Morally wrong to breed humans against their will to see whether genetic traits are recessive or dominant

  • Diseases can be from mutations or form the wild type allele

    • The most common phenotype in an population

15.4 Variations in Inheritance patters and their molecular phases

  • Mendelian Inheritance: inheritance patterns of genes that segregate and assort independently

  • Simple Mendelian Inheritance: Single gene that has two variants controlled by dominant and recessive traits

Protein function explains dominance traits

  • Loss of function alleles: mutations that produce recessive alleles more likely decrease protein function

  • In simple dominant recessive relationship, dominant/wildtype allele can suppress it

  • Not all recessive alleles are harmful to phenotype

  • Pedigree analysis: studying human genetics through family tree

  • used to understand human genetic diseases

  • Genes exist in two different forms

    • wild type allele: the most common allele in a population

    • mutant allele: some people inherit diseases, not as likely to occur

Recessive alleles that cause diseases affect phenotype

  • Pleiotropy: mutation in a single gene has multiple effects on phenotype

  • occurs for three different reasons

    • expression could affect cell function in more than one way

    • May be expressed in different cell types

    • may be expressed in different stages

  • often times, expression of genes are pleiotropic

Incomplete Dominance results in intermediate phenotype

  • Intermediate dominance: two dominant genes compete, meet halfway in phenotype

Environment affects phenotype

  • Norm of reaction: phenotype range that shows in a certain environment

15.5 Sex Chromosomes & X-linked inheritance patterns

Sex Chromosomes are due to presence of sex chromosomes

  • Several mechanisms determination have been found in different species of animals

    • XY system

      • the one found in humans

        • males are xy, females xx

    • XO System

      • occurs in some insects

      • presence of Y doesn’t mean male

      • gender depends on ratio of X to Y

        • less X chromosomes means male

    • ZW System

      • birds and fish

      • males are ZZ, female are ZW

    • Haplodiploid System

      • found in bees

        • makes come from unfertilized eggs

          • are haploid due to half chromosomes

    • Environmental systems

      • in certain reptiles and fish, gender is controlled by environmental factors

In humans X linked recessive traits are more likely to occur

  • X chromosomes are larger and carry more protein coding genes than Y chromosomes

  • X-Linked genes: genes found in X-chromosome only

  • Sex-linked gene: genes that are only found in one chromosome, not the other

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