genetics & epigenetics

• What are the two types of gametes mentioned in the study material?


  Ovum and spermatozoon
• How many chromosomes does each human cell have?


  46 chromosomes
• What is the difference between the 22 pairs of chromosomes and the 23rd pair in humans?


  The first 22 pairs are autosomes, while the 23rd pair consists of sex chromosomes X and Y.
• What are the terms used to describe the number of chromosome sets in cells?


  Diploid and haploid
• What is the term used to describe the observable characteristics of an organism?


  Phenotype
• What does the term genotype refer to?


  The genetic makeup of an organism

  
• What are genes?


  Segments of DNA that contain instructions for building proteins
• What are alleles?


  Different versions of a gene
• What is the analogy used to describe DNA and RNA in the study material?

  Apples in the Trees and Cars in the Garage
• What is a histone?


  A protein that helps package DNA into a compact form
• What are the three laws of inheritance according to Mendel?


  1. Dominance
  2. Segregation
  3. Independent Assortment
• What does the law of dominance state?


  Some alleles are dominant over others and will determine the phenotype.
• What does the law of segregation state?


  Alleles for a trait separate during gamete formation.
• What does the law of independent assortment state?


  Genes for different traits are inherited independently of each other.
• How does inheritance occur according to the study material?


  • Single gene
  • Dominant inheritance
  • Recessive inheritance
  • Sex-linked inheritance
  • Mitochondrial inheritance
  • Polygenic inheritance
  • Multifactorial inheritance

  
• What is sex-linked inheritance?


  Inheritance of traits determined by genes located on sex chromosomes.
• What is an example of a sex-linked trait mentioned in the study material?


  Haemophilia
• How is mitochondrial inheritance characterized?


  It is inherited only from the mother through the ovum.
• What is the estimated occurrence of severe mitochondrial diseases in children?

  1 in 4000 children
• What is polygenic inheritance?


  Inheritance where several genes determine a trait, each with a small effect.
• What is multifactorial inheritance?


  Inheritance that involves multiple genes and environmental factors.
• What is the Developmental Origins of Health and Disease (DOHaD)?


  • Developed from Barker's work in the 1990s
  • Origins of lifestyle-related diseases formed at fertilization, embryonic, fetal, and neonatal stages
  • Interaction between genes and environment (nutrition, stress, chemicals)
  • Equation: Phenotype = Genes + Environment (P = G + E)

  
• What is epigenetics?


  It alters gene expression without changing the DNA code.
• What are the different types of epigenetic modifications mentioned?


  Methylation and histone modification
• How can lifestyle and circumstances of parents affect the epigenome of a baby?


  They can influence gene expression without altering the DNA sequence.
• What is the role of telomeres in chromosomes?


  They protect the ends of chromosomes from damage or fusion.
• What is the difference between aging and senescence?


  Aging refers to the overall process of growing older, while senescence refers to the gradual deterioration of function.
• What are the three age categories mentioned in the study material?

  Young-old, middle-old, and oldest-old
• What is the significance of the Future Nurse Standards in relation to genetics/genomics?


  They emphasize the need for knowledge, skills, and experience in genomics for nurses.

  
• What are the applications of genomics in nursing?


  • Genetic counselling
  • Pharmacology
  • Understanding pathology
• What is the aim of pharmacogenomics?


  To provide the right drug at the right dose for the right patient.
• What is the role of the CYP2C9 gene in pharmacogenomics?


  It is involved in the metabolism of drugs and can vary in phenotype.
• What are the different phenotypes of metabolism mentioned in the study material?

  Ultra rapid, rapid, normal, intermediate, and poor
• What is the potential benefit of understanding pharmacogenomics?


  It may reduce adverse reactions to medications.