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DNA and cell division (B2 Revision) Chromosomes are made from DNA. Genes are short sections of DNA. Genetically identical cells are produced by a type of cell division called mitosis. In sexual reproduction, a male gamete fuses with a female gamete to produce a new cell. This is called fertilisation. Gametes are produced by a type of cell division called meiosis. They contain a single set of chromosomes, whereas body cells contain two sets of chromosomes. DNA, genes and chromosomes DNA DNA (deoxyribose nucleic acid) molecules are large and complex. They carry the genetic code that determines the characteristics of a living thing. Except for identical twins, each person’s DNA is unique. This is why people can be identified using DNA fingerprinting. DNA can be cut up and separated, forming a sort of 'bar code' that is different from one person to the next. Genes A gene is a short section of DNA. Each gene codes for a specific protein by specifying the order in which amino acids must be joined together. Chromosomes The cell’s nucleus contains chromosomes made from long DNA molecules. The diagram shows the relationship between the cell, its nucleus, chromosomes in the nucleus, and genes. Mitosis The chromosomes contain the cell’s genetic information. They are normally found in pairs in body cells. Body cells divide by a process called mitosis. The diagram summarises how this happens. Note that you do not need to know or understand the different stages in mitosis for the examination. When a body cell divides by mitosis: 1. The genetic material is copied 2. The cell divides once to form two genetically identical body cells Mitosis occurs during growth or to produce replacement cells. Gametes and fertilisation Gametes Cells in the reproductive organs (testes and ovaries in humans) divide to form gametes. Gametes are sex cells: Male gametes are sperm (produced in the testes) Female gametes are eggs (produced in the ovaries) Gametes contain one set of genetic information, while body cells contain two sets of genetic information. The type of cell division that produces gametes is called meiosis. Fertilisation Fertilisation is the joining or fusion of a male gamete and a female gamete. When fertilisation happens, a single body cell with new pairs of chromosomes is formed. The new cell then divides over and over again by mitosis. This creates the many cells that eventually form a new individual. Differentiation and stem cells Differentiation Most types of animal cells differentiate at an early stage - they become specialised for a particular function and cannot change into different types of cell. In mature animals, cell division is mainly restricted to replacement and repair. However, many plant cells keep the ability to differentiate. Stem cells Stem cells can be made to differentiate to form different types of cell, such as nerve cells. Human stem cells can come from human embryos or from adult bone marrow. They are able to develop into any kind of human cell. Note that you do not need to know any details of how this happens for the examination. Meiosis - Higher tier A cell divides by meiosis to form gametes. When this happens: 1. Copies of the genetic information are made 2. The cell divides twice to form four gametes Each gamete has a single set of chromosomes. The diagram summarises how this works. Note that you do not need to know or understand the different stages in meiosis for the examination. Alleles Some characteristics, such as eye colour and the shape of the earlobe, are controlled by a single gene. These genes may have different forms. Different forms of the same gene are called alleles (pronounced 'al-eels'). The gene for eye colour has an allele for blue eye colour and an allele for brown eye colour. Alleles are dominant or recessive: The characteristic controlled by a dominant allele develops if the allele is present on one or both chromosomes in a pair The characteristic controlled by a recessive allele develops only if the allele is present on both chromosomes in a pair For example, the allele for brown eyes is dominant, while the allele for blue eyes is recessive. An individual who inherits one or two alleles for brown eyes will have brown eyes. An individual will only have blue eyes if they inherit two copies of the allele for blue eyes. The cells of offspring produced by asexual reproduction are produced bymitosis from the parental cells. They contain the same alleles as the parent. However, sexual reproduction causes variation because when two gametes join together one of each pair of alleles comes from each parent. Note that if you are doing the Foundation tier paper you are expected to be able to interpret genetic diagrams. If you are doing the Higher tier paper, you are expected to be able to draw genetic diagrams for any combination of dominant and recessive alleles. Embryo screening Embryos can be screened for the alleles that cause polydactyly, cystic fibrosis and other genetic disorders. Note that you do not need to know or understand how embryo screening works for the examination. 1. Cystic fibrosis is an inherited disorder that can seriously affect health. (a) Which one of these is affected by cystic fibrosis? Draw a ring around your answer. blood cell membranes kidneys nervous system (1) (b) The diagram shows the inheritance of cystic fibrosis in a family. The allele that produces cystic fibrosis is recessive. (i) Explain why Alice inherited cystic fibrosis. ............................................................. ............................................................. ............................................................ .......................................................... ............................................................. .......................................................... (2) (ii) Explain why Ted did not inherit cystic fibrosis. .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... ........................................................................................................................ (2) (c) Bob and Carol know that there is a risk that their next baby will have cystic fibrosis. Embryos can be screened for the allele that produces cystic fibrosis. Many people support the screening of embryos, but others do not. (i) Suggest one reason why many people support the screening of embryos for the cystic fibrosis allele. .......................................................................................................................... ........................................................................................................................ (1) (ii) Suggest one reason why many people are against the screening of embryos for the cystic fibrosis allele. .......................................................................................................................... .......................................................................................................................... (1) (Total 7 marks) 2. The diagram shows a family tree in which some individuals have an inherited disorder, which may cause serious long-term health problems. (a) What proportion of the children of A and B have the disorder? ................................................................................................................................... (1) (b) Explain the evidence from the diagram which shows that the allele for the disorder is dominant. Use the appropriate letters to identify individuals in your answer. You may use genetic diagrams in your explanation. There is space for you to draw a genetic diagram at the top of the facing page. ..................................................................................................................................... ..................................................................................................................................... .................................................................................................................................. (3) 3. In humans, sex chromosomes control whether a person is male or female. (a) Use letters X and Y to complete the Punnett square for sex inheritance. Eggs or XX.......... ............................ ............................ ............................ ........... Sperm or (3) (b) A couple already have three boys. What is the probability that their next child will be a girl? ........................................................................................................................ (1) (Total 4 marks) 4. A woman gives birth to triplets. Two of the triplets are boys and the third is a girl. The triplets developed from two egg cells released from the ovary at the same time. The diagram shows how triplets A, B and C developed. (a) Which stages on the diagram show gametes? Draw a ring around your answer. 1 and 2 (b) 2 and 3 3 and 7 1 and 7 (1) Embryo B is male. Which of the following explains why embryo B is male? Tick ( ) one box. Cell P has an X chromosome; cell R has an X chromosome. Cell P has a Y chromosome; cell R has an X chromosome. Cell P has an X chromosome; cell R has a Y chromosome. (1) (c) Single cells from an embryo at Stage 7 can be separated and grown in a special solution. (i) What term describes cells that are grown in this way? Draw a ring around your answer. lleles screened cells stem cells (1) (ii) What happens when the cells are placed in the special solution? Tick ( ) two boxes. The cells divide The cells fertilise The cells differentiate The cells separate (2) (iii) Give one use of cells grown in this way. ........................................................................................................................... .......................................................................................................................... (1) 1(a) cell membranes 1 (b) (i) two recessive / cystic fibrosis / faulty / diseased / the allele(s) / genes two can be implied by second marking point ignore chromosomes 1 from Bob and Carol / both parents / the parents if no other marks awarded ‘Carol is a carrier’ gains 1 mark 1 (ii) (inherited) dominant / normal allele / gene 1 from Carol / mother ignore references to recessive allele / gene from father / Bob if no other marks awarded he has just / only one recessive allele gains 1 mark 1 (c) (i) reduce number of people with cystic fibrosis (in population) or reduce health-care costs or expensive to have baby with cystic fibrosis accept to allow decision / emotional argument qualified eg allows abortion or allows people to make choices about termination or help to prepare financially / emotionally etc 1 (ii) any one from: • possible damage / risk to embryo / fetus / baby allow possible harm / risk to mother • screening / it is expensive • (may) have to make ethical / moral / religious decisions ignore not natural / playing God / unethical / immoral / religious unqualified • right to life 1 [7] 2 (a) 1 in 4 / 1/4 / 1: 3 / 25% / 0.25 do not accept 3:1 / 1:4 / 2:6 1 (b) either from C and D accept synonyms for dominant / recessive eg Normal / faulty accept genetic diagram if clearly referring to correct individuals or genotypes on family tree allow ‘gene’ for ‘allele’ any three from: • C and D have disorder ignore ‘C & D are carriers’ • I/J don’t have disorder • C and D have dominant and recessive alleles • recessive alleles from C and D passed to I/J or I/J have two recessive alleles NB if allele was recessive then all offspring of C and D would have the disorder = 3 marks or from A and B assume response refers to A + B unless contradicted • A is homozygous recessive / rr, and B is heterozygous / Rr can be shown in words or symbols allow any symbol • offspring can be rr or Rr described allow without key 3 (c) (i) (embryos) checked for inherited / genetic disorders / conditions accept diseases for disorders 1 (ii) any three from: • C/D have disorder / have dominant allele accept disease / condition accept ‘gene’ for ‘allele’ ignore reference to ‘carriers’ • chance of embryo / foetus / child having disorder or may pass on alleles for disorder to their offspring • C/D might want to decide on termination or prepare for child with disorder • G and H don.t have disorder / both homozygous recessive / have no dominant alleles (for this disorder) • so offspring (of G and H) cannot / don.t have disorder 3 [8] 3 (a) (X) (XX) XX Y XY XY 1 mark for Y in sperm box 1 mark if XX box correct 1 mark if both XY boxes correct 3 (b) 1 : 1 or 50% or ½ or 0.5 or 1 in 2 or 1 out of 2 or 50 : 50 do not accept 50/50 accept equal (probability) 1 [4] 4 (a) 2 and 3 1 (b) cell P has an X chromosome; cell R has a Y chromosome 1 (c) any two from: • (formed from) different egg / 2 eggs • (formed from) different sperm / 2 sperm • have different genes / alleles / chromosomes / DNA allow genetics 2 (d) (i) stem cells 1 (ii) the cells divide 1 the cells differentiate 1 (iii) (medical) research / named eg growing organs or medical / patient treatment allow (embryo) cloning do not allow designer babies / more babies 1 (iv) any one from: • ethical / moral / religious objections ignore cruel / not natural / playing God • potential harm to embryo allow deformed ignore harm to mother 1 [9]