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SBI3U - Unit 2 - Genetics

Text - 169-175

Biozone 1 - pg 115-116, 143-144, 151-152, 145-146, 241-243

Course Pack - 47

Power Points - L1, L2, L2.5

Additional - Karyotyping activity, Crash Course Videos, Meiosis Video

Cell Division

  • Cell division is important for cells to receive genetic material to function, to grow, to heal/repair, and to replace dead cells

    • Genetics - The study of heredity and variation of living organisms and how genetic information is passed from one generation to the next

  • The cell theory, one of the central ideas in biology, states that:

    • All living things are composed of one or more cells

    • Cells are the smallest units of living organisms

    • New cells come only from pre-existing cells by cell division

      • This turns a parent cell into daughter cells

  • All somatic cells go through cell cycles to become two cells

    • Somatic Cell - A plant or animal cell that forms the body of the organism; excludes reproductive cells

The Cell Cycle

  • The three main stages of the cell cycle are interphase, mitosis, and cytokinesis

    • {diagram of pie chart}

    • {diagram of all three stages}

  • Interphase - The stage of the cell cycle during which a cell carries out its normal functions, grows, and makes copies of its genetic material in preparation for the next stage of the cycle

    • The cell grows, matures, copies its DNA, and prepares for division

    • Growth 1 is the major period of growth where the cell synthesizes many new molecules

    • Synthesis is the period where DNA is replicated as uncondensed fibres called chromatin

    • Growth 2 involves the production of more molecules

  • Mitosis - The stage of the cell cycle where a cell’s nucleus and genetic material divide

    • Prophase - The stage where the cell’s chromatin condenses into chromosomes, the nucleus and nucleolus disappear, and spindle fibres form from the centrosomes and move towards the poles

      • Each chromosome exists as two copies of one chromosome called sister chromatids, as they have been replicated in interphase

        • Chromosome - A structure in the nucleus that contains DNA

        • Sister Chromatid - One of two chromosomes that are genetically identical and held together at the centromere

          • Centromere - The region where two sister chromatids are held together in a chromosome

      • Spindle Fibre - A microtubule structure that facilitates the movement of chromosomes within a cell

      • Centrosome - A structure that helps to form the spindle fibres

    • Metaphase - The stage where the spindle fibres from each pole attach to the centromere and guide the chromosome to the equator of the cell

    • Anaphase - The stage where each centromere splits apart, and sister chromatids, now individual chromosomes, are separated to opposite poles so that each pole has a complete set of DNA

    • Telophase - The stage that begins when chromosomes reach the opposite ends of the cell, where chromosomes start to unwind, spindle fibres break down, and the nucleus and nucleolus reform

  • Cytokinesis - The stage of the cell cycle that involves the division of the cell cytoplasm and creation of two new daughter cells

    • In animal cells, an indentation forms and deepens as microfilaments constrict until the cell is pinched in two

    • In plant cells, a new cell plate forms between the two daughter nuclei, and cell walls form on either side of the plate

    • In prokaryotic cells, the duplicated DNA is pulled apart, and binary fission separates the cells

    • The daughter cells then begin interphase at G1

  • Cell cycle checkpoints monitor cell growth

  • Cell growth is monitored by a network of signals

The Structures of Genetic Material

  • DNA is made of two long strands that form a spiral shape called a double helix

  • DNA is usually in strands of chromatin, until mitosis begins

  • The individual units of each strand of DNA are called nucleotides, made of a phosphate group, a sugar group, and a base

    • Sugar and phosphate groups serve as the backbones of the strands

    • The bases protrude inwards, and are paired as either adenine and thymine (A and T) or guanine and cytosine (G and C)

  • Genome - The complete DNA sequence of an organism

  • To replicate DNA, the double helix is unwound, and the bases on each strand of DNA serves as a template for a new strand, called semi-conservative replication because half of the original DNA is kept

Chromosomes

  • Chromosomes are always paired

  • In humans, one half comes from each parent, which are paired as homologous chromosomes

    • Sex Chromosome - An X or Y chromosome, which determines the genetic sex of an organism

      • Females have two X chromosomes, and males have an X and an Y

    • Autosome - A chromosome that is not involved in determining the sex of an organism

    • Homologous Chromosome - A chromosome that contains the same sequence of genes as another chromosome

      • They have similar length, centromere location, and banding patterns, but can have different forms genes

      • Gene - A part of a chromosome that governs the expression of a trait and is passed on to offspring; it has a specific DNA sequence

      • Allele - A different form of the same gene

  • Karyotype - A photograph of pairs of homologous chromosomes in a cell

    • A sample of chromosomes is stained, sorted, and paired

    • The autosomes are labeled as pairs 1 to 22, and the sex chromosomes are labeled as X or Y

Sexual Reproduction

  • Asexual Reproduction - Reproduction that requires only one parent and produces genetically identical offspring

  • Sexual Reproduction - Reproduction that requires two parents and produces genetically distinct offspring

    • This involves the fusion of male reproductive cells with a female reproductive cell

    • Gamete - A male or female reproductive cell

    • Zygote - A cell formed by the fusion of two gametes

    • Fertilization - The joining of male and female haploid cells

    • Gametes have half the number of chromosomes than the parent somatic cell

      • Haploid - A cell that contains half the number of chromosomes as the parent cell, represented by n

      • Diploid - A cell that contains pairs of homologous chromosomes, represented by 2n

Meiosis

  • Meiosis - The cellular process that produces cells containing half the number of chromosomes as the parent cell (genetic reduction) and are genetically unique through combinations of alleles (genetic recombination)

  • Interphase Before Meiosis- Cells that will divide by meiosis will proceed through growth and synthesis, and replicate their chromosomes, so that the meiosis begins with duplicated chromosomes

  • Meiosis has two complete cycles

  • Prophase I - Each pair of homologous chromosomes line up side by side in synapsis, where genetic information is exchanged through crossing over

  • Metaphase I - The pairs of homologous chromosomes line up along the equator of the cell, and spindle fibres attach to the centromere of each homologous chromosome

  • Anaphase I - The homologous chromosomes separate and move to opposite poles, which turns a diploid cell into a haploid cell

  • Telophase I - Homologous chromosomes begin to uncoil and the spindle fibres disappear, the nuclear membrane forms, and two haploid cells form through cytokinesis

  • Prophase II - The nuclear membrane disappears and spindle fibres reappear

  • Metaphase II - A haploid number of chromosomes line up at the equator

  • Anaphase II - Sister chromatids are pulled apart at the centromere by the spindle fibres towards opposite poles of the cells

  • Telophase II - The nuclear membrane and nuclei reform

  • Cytokinesis occurs, resulting in four unique haploid cells

  • Spermatogenesis - The process of producing male gametes in mammals

    • It begins with a diploid cell called a spermatogonium, which reproduce beginning at puberty by mitosis, and then undergo meiosis

    • Following meiosis II, the cells undergo a final set of developmental stages to develop into four mature sperm

  • Oogenesis - The process of producing female gametes in mammals

    • Meiosis takes place in the ovaries

    • It begins with a diploid called an oogonium, which reproduces before birth by mitosis

    • They begin meiosis, but stop at prophase I, where one cell will complete meiosis I every month after puberty

    • This involves an uneven division of cytoplasm, so that the meiosis will form one large, viable egg and a non-viable polar body

    • Once fertilized by sperm, the egg will finish meiosis II and produce one mature egg, and another polar body

    • Twins can be caused by two eggs that are both fertilized, or if a single zygote is divided into two separate bodies

  • Meiosis forms genetically distinct haploids through independent assortment and crossing over

    • Independent Assortment - The orientation of each chromosome in a homologous pair to one pole, which can result in a variation of possible gametes containing a combination of maternal and paternal chromosomes

      • The number of genetically distinct gametes can be represented by 2n

    • Crossing Over - The exchange of chromosomal segments between a pair of homologous chromosomes during prophase I

      • As a result, individual chromosomes contain some genes of maternal origin and some genes of paternal origin

  • Errors during meiosis in both independent assortment and crossing over can result in abnormalities of chromosome structure

    • Deletion - A piece of a chromosome is deleted

    • Duplication - A section of a chromosome appears two or more times in a row

    • Inversion - A section of a chromosome is inverted

    • Translocation - A segment of one chromosome becomes attached to a different chromosome

  • Errors in chromosome numbers are the result of non-disjunction

    • Non-disjunction - The failure of homologous chromosome pairs or sister chromatids to separate during the anaphase stages in meiosis

      • If it occurs during anaphase I, two gametes will have one extra, and two gametes will have one fewer

      • If it occurs during anaphase II, two games will have the normal amount, one gamete will have one extra, and one gamete will have one fewer

    • Monosomy - The loss of a chromosome as a result of non-disjunction

    • Trisomy - The gain of an extra chromosome as a result of non-disjunction

  • Common chromosomal abnormalities in humans

    • Down Syndrome - Trisomy 21, and includes intellectual disabilities and a short stature

    • Edward’s Syndrome - Trisomy 18, and includes intellectual and physical disabilities and facial abnormalities

    • Patau’s Syndrome - Trisomy 13, and includes intellectual and physical disabilities, many organ defects, and a large triangular nose

    • Klinefelter’s Syndrome - XXY, and includes sexual immaturity

    • Jacobs’ Syndrome - XYY, and may be taller than average

    • Metafemale - XXX, and includes menstrual irregularity

    • Turner’s Syndrome - XO, and includes a short stature and underdevelopment sexually

  • Prenatal genetic testing involves tests performed on a fetus to test for genetic-based abnormalities

    • This can include maternal blood tests and ultrasounds to provide information about potential physical and chromosomal abnormalities, which are non-invasive

      • Fetal proteins and fetal neck fluids are obtained and tested

    • Invasive procedures include collecting fetal DNA through amniocentesis, the taking a sample of amniotic fluid in the 14th week, or chorionic villus sampling, where cells from the chorion of the placenta are sampled in the 9th week of pregnancy

LC

SBI3U - Unit 2 - Genetics

Text - 169-175

Biozone 1 - pg 115-116, 143-144, 151-152, 145-146, 241-243

Course Pack - 47

Power Points - L1, L2, L2.5

Additional - Karyotyping activity, Crash Course Videos, Meiosis Video

Cell Division

  • Cell division is important for cells to receive genetic material to function, to grow, to heal/repair, and to replace dead cells

    • Genetics - The study of heredity and variation of living organisms and how genetic information is passed from one generation to the next

  • The cell theory, one of the central ideas in biology, states that:

    • All living things are composed of one or more cells

    • Cells are the smallest units of living organisms

    • New cells come only from pre-existing cells by cell division

      • This turns a parent cell into daughter cells

  • All somatic cells go through cell cycles to become two cells

    • Somatic Cell - A plant or animal cell that forms the body of the organism; excludes reproductive cells

The Cell Cycle

  • The three main stages of the cell cycle are interphase, mitosis, and cytokinesis

    • {diagram of pie chart}

    • {diagram of all three stages}

  • Interphase - The stage of the cell cycle during which a cell carries out its normal functions, grows, and makes copies of its genetic material in preparation for the next stage of the cycle

    • The cell grows, matures, copies its DNA, and prepares for division

    • Growth 1 is the major period of growth where the cell synthesizes many new molecules

    • Synthesis is the period where DNA is replicated as uncondensed fibres called chromatin

    • Growth 2 involves the production of more molecules

  • Mitosis - The stage of the cell cycle where a cell’s nucleus and genetic material divide

    • Prophase - The stage where the cell’s chromatin condenses into chromosomes, the nucleus and nucleolus disappear, and spindle fibres form from the centrosomes and move towards the poles

      • Each chromosome exists as two copies of one chromosome called sister chromatids, as they have been replicated in interphase

        • Chromosome - A structure in the nucleus that contains DNA

        • Sister Chromatid - One of two chromosomes that are genetically identical and held together at the centromere

          • Centromere - The region where two sister chromatids are held together in a chromosome

      • Spindle Fibre - A microtubule structure that facilitates the movement of chromosomes within a cell

      • Centrosome - A structure that helps to form the spindle fibres

    • Metaphase - The stage where the spindle fibres from each pole attach to the centromere and guide the chromosome to the equator of the cell

    • Anaphase - The stage where each centromere splits apart, and sister chromatids, now individual chromosomes, are separated to opposite poles so that each pole has a complete set of DNA

    • Telophase - The stage that begins when chromosomes reach the opposite ends of the cell, where chromosomes start to unwind, spindle fibres break down, and the nucleus and nucleolus reform

  • Cytokinesis - The stage of the cell cycle that involves the division of the cell cytoplasm and creation of two new daughter cells

    • In animal cells, an indentation forms and deepens as microfilaments constrict until the cell is pinched in two

    • In plant cells, a new cell plate forms between the two daughter nuclei, and cell walls form on either side of the plate

    • In prokaryotic cells, the duplicated DNA is pulled apart, and binary fission separates the cells

    • The daughter cells then begin interphase at G1

  • Cell cycle checkpoints monitor cell growth

  • Cell growth is monitored by a network of signals

The Structures of Genetic Material

  • DNA is made of two long strands that form a spiral shape called a double helix

  • DNA is usually in strands of chromatin, until mitosis begins

  • The individual units of each strand of DNA are called nucleotides, made of a phosphate group, a sugar group, and a base

    • Sugar and phosphate groups serve as the backbones of the strands

    • The bases protrude inwards, and are paired as either adenine and thymine (A and T) or guanine and cytosine (G and C)

  • Genome - The complete DNA sequence of an organism

  • To replicate DNA, the double helix is unwound, and the bases on each strand of DNA serves as a template for a new strand, called semi-conservative replication because half of the original DNA is kept

Chromosomes

  • Chromosomes are always paired

  • In humans, one half comes from each parent, which are paired as homologous chromosomes

    • Sex Chromosome - An X or Y chromosome, which determines the genetic sex of an organism

      • Females have two X chromosomes, and males have an X and an Y

    • Autosome - A chromosome that is not involved in determining the sex of an organism

    • Homologous Chromosome - A chromosome that contains the same sequence of genes as another chromosome

      • They have similar length, centromere location, and banding patterns, but can have different forms genes

      • Gene - A part of a chromosome that governs the expression of a trait and is passed on to offspring; it has a specific DNA sequence

      • Allele - A different form of the same gene

  • Karyotype - A photograph of pairs of homologous chromosomes in a cell

    • A sample of chromosomes is stained, sorted, and paired

    • The autosomes are labeled as pairs 1 to 22, and the sex chromosomes are labeled as X or Y

Sexual Reproduction

  • Asexual Reproduction - Reproduction that requires only one parent and produces genetically identical offspring

  • Sexual Reproduction - Reproduction that requires two parents and produces genetically distinct offspring

    • This involves the fusion of male reproductive cells with a female reproductive cell

    • Gamete - A male or female reproductive cell

    • Zygote - A cell formed by the fusion of two gametes

    • Fertilization - The joining of male and female haploid cells

    • Gametes have half the number of chromosomes than the parent somatic cell

      • Haploid - A cell that contains half the number of chromosomes as the parent cell, represented by n

      • Diploid - A cell that contains pairs of homologous chromosomes, represented by 2n

Meiosis

  • Meiosis - The cellular process that produces cells containing half the number of chromosomes as the parent cell (genetic reduction) and are genetically unique through combinations of alleles (genetic recombination)

  • Interphase Before Meiosis- Cells that will divide by meiosis will proceed through growth and synthesis, and replicate their chromosomes, so that the meiosis begins with duplicated chromosomes

  • Meiosis has two complete cycles

  • Prophase I - Each pair of homologous chromosomes line up side by side in synapsis, where genetic information is exchanged through crossing over

  • Metaphase I - The pairs of homologous chromosomes line up along the equator of the cell, and spindle fibres attach to the centromere of each homologous chromosome

  • Anaphase I - The homologous chromosomes separate and move to opposite poles, which turns a diploid cell into a haploid cell

  • Telophase I - Homologous chromosomes begin to uncoil and the spindle fibres disappear, the nuclear membrane forms, and two haploid cells form through cytokinesis

  • Prophase II - The nuclear membrane disappears and spindle fibres reappear

  • Metaphase II - A haploid number of chromosomes line up at the equator

  • Anaphase II - Sister chromatids are pulled apart at the centromere by the spindle fibres towards opposite poles of the cells

  • Telophase II - The nuclear membrane and nuclei reform

  • Cytokinesis occurs, resulting in four unique haploid cells

  • Spermatogenesis - The process of producing male gametes in mammals

    • It begins with a diploid cell called a spermatogonium, which reproduce beginning at puberty by mitosis, and then undergo meiosis

    • Following meiosis II, the cells undergo a final set of developmental stages to develop into four mature sperm

  • Oogenesis - The process of producing female gametes in mammals

    • Meiosis takes place in the ovaries

    • It begins with a diploid called an oogonium, which reproduces before birth by mitosis

    • They begin meiosis, but stop at prophase I, where one cell will complete meiosis I every month after puberty

    • This involves an uneven division of cytoplasm, so that the meiosis will form one large, viable egg and a non-viable polar body

    • Once fertilized by sperm, the egg will finish meiosis II and produce one mature egg, and another polar body

    • Twins can be caused by two eggs that are both fertilized, or if a single zygote is divided into two separate bodies

  • Meiosis forms genetically distinct haploids through independent assortment and crossing over

    • Independent Assortment - The orientation of each chromosome in a homologous pair to one pole, which can result in a variation of possible gametes containing a combination of maternal and paternal chromosomes

      • The number of genetically distinct gametes can be represented by 2n

    • Crossing Over - The exchange of chromosomal segments between a pair of homologous chromosomes during prophase I

      • As a result, individual chromosomes contain some genes of maternal origin and some genes of paternal origin

  • Errors during meiosis in both independent assortment and crossing over can result in abnormalities of chromosome structure

    • Deletion - A piece of a chromosome is deleted

    • Duplication - A section of a chromosome appears two or more times in a row

    • Inversion - A section of a chromosome is inverted

    • Translocation - A segment of one chromosome becomes attached to a different chromosome

  • Errors in chromosome numbers are the result of non-disjunction

    • Non-disjunction - The failure of homologous chromosome pairs or sister chromatids to separate during the anaphase stages in meiosis

      • If it occurs during anaphase I, two gametes will have one extra, and two gametes will have one fewer

      • If it occurs during anaphase II, two games will have the normal amount, one gamete will have one extra, and one gamete will have one fewer

    • Monosomy - The loss of a chromosome as a result of non-disjunction

    • Trisomy - The gain of an extra chromosome as a result of non-disjunction

  • Common chromosomal abnormalities in humans

    • Down Syndrome - Trisomy 21, and includes intellectual disabilities and a short stature

    • Edward’s Syndrome - Trisomy 18, and includes intellectual and physical disabilities and facial abnormalities

    • Patau’s Syndrome - Trisomy 13, and includes intellectual and physical disabilities, many organ defects, and a large triangular nose

    • Klinefelter’s Syndrome - XXY, and includes sexual immaturity

    • Jacobs’ Syndrome - XYY, and may be taller than average

    • Metafemale - XXX, and includes menstrual irregularity

    • Turner’s Syndrome - XO, and includes a short stature and underdevelopment sexually

  • Prenatal genetic testing involves tests performed on a fetus to test for genetic-based abnormalities

    • This can include maternal blood tests and ultrasounds to provide information about potential physical and chromosomal abnormalities, which are non-invasive

      • Fetal proteins and fetal neck fluids are obtained and tested

    • Invasive procedures include collecting fetal DNA through amniocentesis, the taking a sample of amniotic fluid in the 14th week, or chorionic villus sampling, where cells from the chorion of the placenta are sampled in the 9th week of pregnancy

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