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 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 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
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 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
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 - 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
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 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 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
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 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
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 - 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