Reproduction & Inheritance (Edexcel International A Level (IAL) Biology): Flashcards

Exam code: YBI11

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  • Gene

    A gene is a length of DNA that codes for a single polypeptide or protein.

  • Locus (plural: loci)

    A locus is the specific position of a gene on a chromosome.

  • What is an allele?

    An allele is a different form of a gene, with slightly different nucleotide sequences, but occupying the same locus on a chromosome.

  • Each chromosome consists of a long molecule containing many genes.

    Each chromosome consists of a long DNA molecule containing many genes.

  • True or False?

    Different alleles of a gene occupy different positions on a chromosome.

    False.

    Different alleles of a gene occupy the same position (locus) on a chromosome.

  • What does it mean if two genes are linked?

    If two genes are linked, they are located on the same chromosome.

  • Autosomal linkage

    Autosomal linkage is when two or more genes are located on the same autosome (any chromosome that is not a sex chromosome) and are inherited together.

  • Sex-linked genes are most often found on the chromosome.

    Sex-linked genes are most often found on the X chromosome.

  • True or False?

    A male with one recessive allele for a sex-linked gene on the X chromosome will always show the associated trait.

    True.

    Males have only one X chromosome, so a single recessive allele will result in expression of the trait.

  • Who was the scientist that discovered sex linkage in Drosophila?

    Thomas Hunt Morgan discovered sex linkage in Drosophila melanogaster.

  • Females have two chromosomes, while males have one X and one chromosome.

    Females have two X chromosomes, while males have one X and one Y chromosome.

  • What is a carrier in the context of sex-linked genetic conditions?

    A carrier is a female with one dominant and one recessive allele for a sex-linked gene, who does not show the disease herself but can pass the recessive allele to her offspring.

  • Linked genes on the same autosome are inherited , not independently, during meiosis.

    Linked genes on the same autosome are inherited together, not independently, during meiosis.

  • Crossing over

    Crossing over is the process by which non-sister chromatids exchange alleles during prophase I of meiosis I, resulting in new combinations of alleles.

  • Chiasma

    A chiasma (plural: chiasmata) is the point where non-sister chromatids become entangled and crossing over occurs during prophase I of meiosis I.

  • During which stage of meiosis does crossing over occur?

    Crossing over occurs during prophase I of meiosis I.

  • The paired homologous chromosomes during prophase I are known as .

    The paired homologous chromosomes during prophase I are known as bivalents.

  • What is the significance of crossing over for genetic variation?

    Crossing over increases genetic variation by creating new combinations of alleles on chromosomes.

  • The process that produces gametes which are different from each other is called .

    The process that produces gametes which are genetically different from each other is called meiosis.

  • Independent assortment

    Independent assortment is the production of different combinations of alleles in daughter cells due to the random alignment of homologous chromosome pairs during metaphase I of meiosis I.

  • True or False?

    Homologous chromosomes are separated during meiosis II.

    False.

    Homologous chromosomes are separated during meiosis I, not meiosis II. Meiosis II separates sister chromatids.

  • What formula is used to calculate the number of possible chromosome combinations due to independent assortment?

    The formula 2^n is used, where n is the number of chromosomes in a haploid cell.

  • During metaphase I, the of homologous chromosome pairs is random, leading to genetic .

    During metaphase I, the alignment of homologous chromosome pairs is random, leading to genetic variation.

  • Haploid nucleus

    A haploid nucleus has a single set of chromosomes (n), as found in gametes after meiosis.

  • Which two processes during meiosis increase genetic diversity of gametes?

    The two processes are crossing over and independent assortment. Both increase genetic variation among gametes.

  • Gamete

    A gamete is a sex cell of an organism, such as a sperm or egg (ovum).

  • What is fertilisation in humans?

    Fertilisation is the fusion of the nuclei from a male gamete (sperm cell) and a female gamete (egg cell) to form a zygote.

  • Gametes are formed during and only have one copy of each chromosome, so they are cells.

    Gametes are formed during meiosis and only have one copy of each chromosome, so they are haploid cells.

  • How many chromosomes does a human sperm cell contain?

    A human sperm cell contains 23 single chromosomes in its nucleus.

  • Haploid

    A haploid cell has only one set of chromosomes; in humans, this means 23 chromosomes.

  • What is the function of the acrosome in a sperm cell?

    The acrosome contains digestive enzymes that break down the protective glycoprotein layer (zona pellucida) around the egg cell.

  • Sperm cells have a that allows them to swim towards the egg and many to provide energy for this movement.

    Sperm cells have a flagellum that allows them to swim towards the egg and many mitochondria to provide energy for this movement.

  • True or False?

    The zona pellucida of the egg cell allows multiple sperm nuclei to enter after fertilisation.

    False.

    After fertilisation, the zona pellucida forms an impenetrable barrier to prevent other sperm nuclei from entering the egg.

  • Why does the egg cell contain a large amount of cytoplasm with stored food?

    The egg cell contains a large amount of cytoplasm with stored food to nourish the developing embryo.

  • The is the layer of follicle cells that forms a protective coating around the secondary oocyte.

    The corona radiata is the layer of follicle cells that forms a protective coating around the secondary oocyte.

  • Fertilisation

    Fertilisation is the fusion of the nuclei from a male gamete (sperm cell) and a female gamete (egg cell).

  • Where in the female reproductive system does fertilisation usually occur?

    Fertilisation usually occurs in the oviduct, where the sperm meets the egg cell.

  • During sexual intercourse, semen is ejaculated high up into the of the female, near the .

    During sexual intercourse, semen is ejaculated high up into the vagina of the female, near the cervix.

  • True or False?

    The acrosome reaction involves sperm enzymes digesting a path through the zona pellucida.

    True.

    During the acrosome reaction, the sperm cell releases enzymes that digest a path through the zona pellucida.

  • The reaction prevents more than one sperm from entering the egg cell by causing the to thicken and harden.

    The cortical reaction prevents more than one sperm from entering the egg cell by causing the zona pellucida to thicken and harden.

  • What is a zygote and how is it formed?

    A zygote is a fertilised egg cell formed when the male and female gamete nuclei fuse. It contains the full 46 chromosomes, half from each parent.

  • Acrosome reaction

    The acrosome reaction is when the head of the sperm cell releases enzymes that digest a path through the zona pellucida, allowing the sperm to pass through the egg cell membrane.

  • What happens to the zygote in the days following fertilisation?

    The zygote divides by mitosis to form two cells, which continue to divide to form an embryo. The new cells later become specialised to form the body tissues of the offspring.

  • What is required for sexual reproduction in flowering plants?

    Sexual reproduction in flowering plants requires the transfer of pollen between the male and female parts of flowers.

  • The transfer of pollen from the to the is known as pollination.

    The transfer of pollen from the anther to the stigma is known as pollination.

  • Pollination

    Pollination is the transfer of pollen from the anther (male part) to the stigma (female part) of a flower.

  • True or False?

    Flowers usually contain only male or only female reproductive parts.

    False.

    Flowers usually contain both male and female reproductive parts.

  • Anther

    The anther is the part of the flower where pollen is produced.

  • Stigma

    The stigma is the part of the female reproductive organ of a flower which receives the pollen.

  • What happens after pollination has occurred in flowering plants?

    After pollination, the pollen grain germinates and a pollen tube grows from the pollen grain down the style to the ovary.

  • The generative nucleus divides by to form two haploid male nuclei.

    The generative nucleus divides by mitosis to form two haploid male nuclei.

  • What is double fertilisation in flowering plants?

    Double fertilisation is the process where one haploid male nucleus fuses with the egg cell nucleus to form a diploid zygote, and the other fuses with two polar nuclei to form a triploid endosperm nucleus.

  • The endosperm nucleus formed during double fertilisation is .

    The endosperm nucleus formed during double fertilisation is triploid.

  • Mitosis

    Mitosis is the process of nuclear division that produces two genetically identical daughter nuclei with the same number of chromosomes as the parent cell nucleus.

  • Mitosis produces that are genetically to the parent cell nucleus.

    Mitosis produces daughter nuclei that are genetically identical to the parent cell nucleus.

  • What are the four main stages of mitosis?

    The four main stages of mitosis are prophase, metaphase, anaphase, and telophase.

  • During , chromosomes line up at the of the cell.

    During metaphase, chromosomes line up at the equator of the cell.

  • What is the role of spindle fibres during mitosis?

    Spindle fibres are protein microtubules that attach to chromosomes and pull the sister chromatids apart to opposite poles of the cell during mitosis.

  • True or False?

    Cytokinesis is one of the four stages of mitosis.

    False.

    Cytokinesis is not a stage of mitosis. It is a separate part of the cell cycle that occurs after nuclear division.

  • Sister chromatids

    Sister chromatids are two identical copies of a chromosome joined together at the centromere, formed during DNA replication.

  • In , chromosomes condense and become visible, and the nuclear envelope .

    In prophase, chromosomes condense and become visible, and the nuclear envelope breaks down.

  • What happens to the chromosomes during anaphase?

    During anaphase, sister chromatids separate at the centromere and are pulled to opposite poles of the cell by spindle fibres.

  • Asexual reproduction

    Asexual reproduction is the production of new individuals from a single parent where the offspring are genetically identical to the parent.

  • What are the three phases of the cell cycle?

    The three phases of the cell cycle are interphase, nuclear division (mitosis), and cell division (cytokinesis).

  • During , the cell grows, replicates its DNA, and prepares for mitosis.

    During interphase, the cell grows, replicates its DNA, and prepares for mitosis.

  • True or False?

    The G1 phase of interphase is when DNA replication occurs.

    False.

    DNA replication occurs during the S phase (synthesis phase) of interphase, not G1.

  • Chemical signals called trigger movement from one phase of the cell cycle to the next.

    Chemical signals called cyclins trigger movement from one phase of the cell cycle to the next.

  • Cytokinesis

    Cytokinesis is the process where the whole cell divides after nuclear division, resulting in two genetically identical daughter cells.

  • Meristem

    A meristem is a region in plants where active cell division occurs, leading to growth. In roots, meristems are found just behind the protective root cap.

  • Where in a plant root can the meristem be found?

    The meristem in a plant root is found just behind the protective root cap.

  • In the root tip meristem, there is a containing cells undergoing mitosis.

    In the root tip meristem, there is a zone of cell division containing cells undergoing mitosis.

  • Which laboratory technique spreads out root tip cells to allow observation of mitosis?

    The squash technique is used to spread out root tip cells so individual cells undergoing mitosis can be observed.

  • Root tips are commonly stained with to make chromosomes visible under the microscope.

    Root tips are commonly stained with acetic orcein to make chromosomes visible under the microscope.

  • True or False?

    Cells undergoing mitosis in the root tip meristem are found in random locations along the root.

    False.

    Cells undergoing mitosis are found in a specific zone of cell division within the root tip meristem, not randomly distributed.

  • Squash technique

    The squash technique involves staining and gently pressing root tip cells into a thin layer so individual cells and their chromosomes can be observed clearly under a microscope.

  • A water bath at °C is used to warm hydrochloric acid during root tip preparation.

    A water bath at 60°C is used to warm hydrochloric acid during root tip preparation.

  • What is the purpose of adding stain such as acetic orcein to the root tip during slide preparation?

    Stains such as acetic orcein bind to chromosomes, making them more visible and allowing the different stages of mitosis to be observed under the microscope.

  • After preparing and staining a root tip slide, it is observed under an .

    After preparing and staining a root tip slide, it is observed under an optical microscope.

  • Mitotic index

    The mitotic index is the proportion of cells in a sample that are undergoing mitosis.

  • What is the formula for calculating the mitotic index?

    The formula for calculating the mitotic index is: number of cells with visible chromosomes ÷ total number of cells.

  • The mitotic index can be given as a by multiplying the answer by 100.

    The mitotic index can be given as a percentage by multiplying the answer by 100.

  • True or False?

    To calculate the mitotic index, you divide the total number of cells by the number of cells with visible chromosomes.

    False.

    You divide the number of cells with visible chromosomes by the total number of cells.

  • In a sample where 32 out of 42 cells have visible chromosomes, the mitotic index is .

    In a sample where 32 out of 42 cells have visible chromosomes, the mitotic index is 0.76.

  • If a tissue sample has 14 cells in prophase, 5 in metaphase, 3 in anaphase, 6 in telophase, and 36 in interphase, what is the mitotic index?

    The mitotic index is 0.44. This is calculated as (14 + 5 + 3 + 6) ÷ (36 + 14 + 5 + 3 + 6) = 28 ÷ 64 = 0.44.

  • To find the mitotic index, count the number of cells with chromosomes and divide by the total number of .

    To find the mitotic index, count the number of cells with visible chromosomes and divide by the total number of cells.

  • What is the mitotic index for a sample with 20 cells showing visible chromosomes out of a total of 75 cells?

    The mitotic index is 0.27, calculated as 20 ÷ 75 = 0.27.

  • Stem cell

    A stem cell is a cell that can divide an unlimited number of times and has the potential to remain a stem cell or differentiate into a specialised cell.

  • What is potency in relation to stem cells?

    Potency is the ability of a stem cell to differentiate into more specialised cell types.

  • Totipotent cell

    A totipotent cell can differentiate into any cell type found in an embryo as well as extra-embryonic cells such as the placenta and umbilical cord.

  • Pluripotent cell

    A pluripotent cell can differentiate into any cell type found in an embryo but cannot form the placenta or umbilical cord.

  • Multipotent cell

    A multipotent cell is an adult stem cell that can only specialise into certain types of cells and is no longer pluripotent.

  • The zygote formed when a sperm fertilises an egg cell is .

    The zygote formed when a sperm fertilises an egg cell is totipotent.

  • True or False?

    Pluripotent cells can differentiate into any cell type, including cells that form the placenta.

    False.

    Pluripotent cells can differentiate into any cell type found in the embryo but cannot form the placenta or umbilical cord.

  • During which stage of human embryo development are cells totipotent?

    Totipotent cells are present up to the 16-cell stage of embryo development (around the fourth day after fertilisation).

  • In plants, stem cells are found in areas of growth such as and .

    In plants, stem cells are found in areas of growth such as shoots and roots.

  • What is a main advantage of using embryonic stem cells in medicine?

    Embryonic stem cells can differentiate into almost any cell type, making them highly valuable for the therapeutic treatment of many diseases.

  • Why is the use of adult stem cells less controversial than embryonic stem cells?

    The use of adult stem cells is less controversial because the donor can give permission and no viable embryo is destroyed.

  • Stem cell therapy for leukaemia often involves a transplant to replace damaged bone marrow.

    Stem cell therapy for leukaemia often involves a bone marrow stem cell transplant to replace damaged bone marrow.

  • True or False?

    One disadvantage of using adult stem cells for therapy is their limited ability to differentiate.

    True.

    Adult stem cells can only differentiate into a limited range of cell types, which limits their use for treating some diseases.

  • Morula

    A morula is a solid ball of totipotent cells formed by mitotic division of the zygote in the early stages of mammalian embryo development.

  • Blastocyst

    A blastocyst is a hollow ball of cells that develops from the morula, consisting of an outer cell layer and an inner cell mass of pluripotent stem cells.

  • Differential gene expression

    Differential gene expression is the process by which only certain genes are activated and expressed in a stem cell, leading to specialisation.

  • Every nucleus within the stem cells of a multicellular organism contains the , meaning all stem cells have an .

    Every nucleus within the stem cells of a multicellular organism contains the same genes, meaning all stem cells have an identical genome.

  • What is the key to development and specialisation in stem cells?

    Controlling gene expression is the key to development, as it causes stem cells to differentiate into specialised cell types.

  • During differentiation, only in the DNA are and expressed.

    During differentiation, only certain genes in the DNA are activated and expressed.

  • Transcription factor

    A transcription factor is a protein that controls gene expression by binding to specific regions of DNA.

  • What is the role of mRNA in differential gene expression?

    mRNA is transcribed only from active genes, and is then translated to proteins that help determine cell specialisation.

  • Specialised cell

    A specialised cell is a cell whose structure and proteins are adapted to carry out a particular function, produced by expressing only certain genes.

  • How do repressor transcription factors inhibit gene expression?

    Repressors prevent RNA polymerase from binding to the promoter of a gene, thereby inhibiting transcription.

  • Operon

    An operon is a section of DNA containing a cluster of structural genes transcribed together and control elements like promoters and operators.

  • Activator

    An activator is a transcription factor that increases the rate of transcription of a gene by helping RNA polymerase bind to the promoter.

  • True or False?

    When a gene is switched off in a specialised cell, it is deleted from the cell's DNA.

    False.

    The gene is still present in the DNA — it is simply not expressed (not transcribed) in that cell type.

  • Why can cells with identical genomes carry out very different functions?

    Because of differential gene expression: each cell type transcribes and translates only a specific subset of its genes, making different proteins suited to its role.

  • Transcription factors bind to a region of DNA called the , controlling whether of a gene can begin.

    Transcription factors bind to a region of DNA called the promoter, controlling whether transcription of a gene can begin.

  • What is the sequence of events from gene to specialised cell function?

    Specific genes are switched onmRNA is transcribed from them → the mRNA is translated into proteins → these proteins give the cell its specialised structure and function.

  • Irreversible specialisation

    Irreversible specialisation is when a cell, after differentiation, remains in its specialised form and cannot revert to a stem cell.

  • Post-transcriptional modification

    A post-transcriptional modification is a change made to an mRNA transcript after it is produced, such as splicing, which can regulate gene expression.

  • In eukaryotic cells, where does transcription occur compared to translation?

    In eukaryotes, transcription happens in the nucleus, while translation occurs in the cytoplasm.

  • During transcription, both and exons are copied to produce .

    During transcription, both introns and exons are copied to produce pre-mRNA.

  • Splicing

    Splicing is a post-transcriptional modification in which introns are removed and exons are joined together in pre-mRNA to produce mature mRNA.

  • What is the difference between introns and exons?

    Introns are non-coding regions of DNA within a gene, while exons are coding regions that are expressed in the final mRNA.

  • After splicing, the resulting mRNA contains only sequences of the gene.

    After splicing, the resulting mRNA contains only coding sequences of the gene.

  • Alternative splicing

    Alternative splicing is the process where exons of pre-mRNA are joined in different combinations to produce multiple mature mRNAs from a single gene, allowing one gene to code for more than one protein.

  • True or False?

    A single eukaryotic gene can produce more than one protein through post-transcriptional modification.

    True.

    Alternative splicing of pre-mRNA allows a single gene to produce multiple different proteins by varying which exons are included in the mature mRNA.

  • Phenotype

    A phenotype is the observable characteristics of an organism, determined by its genotype and environmental factors.

  • What is phenotypic variation?

    Phenotypic variation is the difference in phenotypes between organisms of the same species.

  • The four different human blood groups are due to different individuals having two of three possible for the single ABO gene.

    The four different human blood groups are due to different individuals having two of three possible alleles for the single ABO gene.

  • Explain how environmental factors can lead to phenotypic variation in genetically identical plants.

    Genetically identical plants can grow to different heights when grown in different environmental conditions, demonstrating that environmental factors can cause phenotypic variation.

  • Phenotype is determined by the expression of the genotype and the interaction of the with it.

    Phenotype is determined by the expression of the genotype and the interaction of the environment with it.

  • Genetic variation

    Genetic variation is the small differences in DNA base sequences between individuals of the same species, and is inherited from generation to generation.

  • What is the difference between monogenic and polygenic inheritance?

    Monogenic inheritance involves characteristics controlled by a single gene, usually showing discontinuous variation, while polygenic inheritance involves several genes and usually results in continuous variation.

  • Variation in phenotype caused solely by pressures cannot be inherited by offspring.

    Variation in phenotype caused solely by environmental pressures cannot be inherited by offspring.

  • What is epigenetics?

    Epigenetics is the control of gene expression by factors other than DNA sequence, typically involving the switching on and off of genes without changing the genetic code.

  • True or False?

    DNA methylation increases gene expression by making chromatin less tightly packed.

    False.

    DNA methylation suppresses gene expression by making chromatin more tightly packed and inhibiting transcription factor binding.

  • Addition of acetyl groups to lysine residues on histone proteins causes DNA to be tightly wrapped and gene expression to be .

    Addition of acetyl groups to lysine residues on histone proteins causes DNA to be less tightly wrapped and gene expression to be activated.

  • Can epigenetic changes be inherited by daughter cells after cell division?

    Yes, epigenetic changes such as DNA methylation or histone modification can be passed on to daughter cells after cell division, allowing the same pattern of gene expression to be maintained.

  • Continuous variation

    Continuous variation is when phenotypes show a range of values between two extremes and do not fall into discrete categories.

  • The mass or height of a human is an example of .

    The mass or height of a human is an example of continuous variation.

  • How can you identify continuous variation when presented in a table or graph?

    Continuous variation can be identified by the lack of discrete categories and the presence of a range of values between two extremes.

  • Continuous variation differs from variation because phenotypes do not fall into categories.

    Continuous variation differs from discontinuous variation because phenotypes do not fall into discrete categories.

  • Polygenic inheritance

    Polygenic inheritance is the control of a phenotype by several genes, often resulting in continuous variation.

  • Which type of inheritance usually results in discontinuous variation?

    Monogenic inheritance usually results in discontinuous variation.

  • Characteristics controlled by a gene are called characteristics.

    Characteristics controlled by a single gene are called monogenic characteristics.

  • What is the difference between monogenic and polygenic inheritance?

    Monogenic inheritance involves a single gene controlling a characteristic, while polygenic inheritance involves several genes influencing a phenotype.

  • True or False?

    Polygenic inheritance usually gives rise to continuous variation.

    True.

    Polygenic inheritance involves several genes, so the phenotype shows continuous variation.

  • At the genetic level, different alleles at a single locus have a effect on the phenotype.

    At the genetic level, different alleles at a single locus have a small effect on the phenotype.

  • How does the environment contribute to continuous variation?

    Phenotype is affected by both genotype and environment, so environmental factors can influence the expression of traits and contribute to continuous variation.

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