Mutations

• What are the learning outcomes related to meiosis in Year 11 Human Biological Sciences?

  Crossing over, non-disjunction, and random assortment of chromosomes produce gametes with different genetic content.

  
• How does crossing over affect the linkage of genes?

  Crossing over can affect the linkage of genes by exchanging genetic material between homologous chromosomes.
• Why is independent assortment of chromosomes important?


  Independent assortment is important in determining the chances of identical gametes being formed.
• What syndromes are produced by non-disjunction?

  Non-disjunction produces syndromes known as monosomy and trisomy.
• What role does random fertilization play in genetics?

  Random fertilization is important in determining the probabilities of offspring genotypes and phenotypes.
• What can uncontrolled division of cells result in?

  Uncontrolled division of cells can result in the development of tumors or cancers.
• Why is it important to differentiate between malignant and benign cancers?

  Differentiating between malignant and benign cancers is important for treatment and the probability of ongoing cancers.
• What new technologies have made early detection of cancers possible?

  New technologies include Pap smear, breast screening, and blood tests for prostate cancer.
• What are the objectives related to mutations in Year 11 Human Biological Sciences?

  • Causes of mutations
  • Changes in the DNA sequence
  • Conditions caused by mutations: somatic and germline
  • Chromosomal mutations
  • Analysis of karyotypes
  • New variations due to mutations may be advantageous or disadvantageous
  • Genetic testing of parents and offspring for gene and chromosomal abnormalities

  
• How do all forms of cancer arise?

  All forms of cancer arise when normal differentiation of cells goes wrong.
• What is a tumour?

  A tumour is an abnormal mass of tissue resulting from uncontrolled division of cells.
• How do cancer cells differ from normal tissue cells?

  Cancer cells do not differentiate into the normal tissue cells that surround the tumour.
• What are the two types of tumours?

  Malignant and benign tumours.
• What causes cancer to develop in somatic cells?

  Cancer develops in somatic cells due to mutations in DNA that occur during cell division.
• What are carcinogens?


  Carcinogens are substances that can trigger the formation of malignant tumours.
• What is the effect of UV radiation on health?

  UV radiation can produce cancer of the skin.
• How can X-rays affect DNA?

  1. rays can cause mutations in DNA.
• What is ionising radiation?


  Ionising radiation is produced by radium and ores of uranium.
• How can viruses contribute to cancer?

  Viruses like HPV can cause cervical cancer.
• What are some examples of chemical carcinogens?

  Examples include alcohol, asbestos, and tobacco tar.
• What are some cancer prevention strategies?

  Strategies include avoiding smoking, limiting alcohol intake, and reducing exposure to UV radiation.
• What is the leading cause of death in Australia?

  Cancer is the leading cause of death in Australia.
• What tests are available for early detection of cervical cancer?

  The Pap smear can be used to detect abnormalities in cervical cells before they become cancerous.
• How does mammography help in breast cancer detection?

  Mammography is an X-ray of the breast that detects tumours as small as 1 cm in diameter.
• What does the faecal occult blood test (FOBT) detect?

  FOBT detects blood in faeces that may arise from tumours.
• What are some methods for detecting prostate cancer?

  Methods include digital rectal examination, PSA test, and biopsy.
• How does early detection of cancer affect survival rates?

  Early detection of cancer improves survival rates.
• What is a mutation?

  A mutation is a characteristic that occurs suddenly in offspring and does not resemble either parent.
• What are gene mutations?

  Gene mutations involve the alteration of a single gene, destroying or changing the traits normally produced by that gene.

  
• What are chromosomal mutations?

  Chromosomal mutations affect all or parts of a chromosome.
• What are somatic mutations?

  Somatic mutations affect body cells and are passed on during mitosis to daughter cells.
• What are germline mutations?

  Germline mutations occur when reproductive cells are affected and may be passed on through gametes.
• What happens if an affected gamete becomes part of a zygote?

  If an affected gamete becomes part of a zygote, the embryo is normally aborted early in the pregnancy.
• What are mutagens?


  Mutagens are substances that cause mutations or increase the rate at which mutations take place.
• What are some known mutagens?

  Known mutagens include mustard gas, formaldehyde, and sulphur dioxide.
• How can gene mutations occur?

  Gene mutations may occur by a change in one base, known as a point mutation.
• What is an example of a gene mutation?

  An example of a gene mutation is albinism, which is due to one missing protein.
• What is Duchenne muscular dystrophy?


  Duchenne muscular dystrophy is caused by a mutation in the mother or in a male zygote, resulting in muscle tissue wasting.
• What is cystic fibrosis?

  Cystic fibrosis is caused by a mutation on chromosome 7 affecting the regulation of chloride ions across the cell membrane.
• What are the types of chromosomal mutations?

  Types of chromosomal mutations include deletion, duplication, insertion, translocation, inversions, and non-disjunctions.