chapter 1

• Cell & Human Genetics


  MLS 1223
• Course Learning Objectives


  • Discuss the principles of cell biology and human genetics
  • Identify the fundamental of transmission genetics and the flow of genetic information
  • Describe medical genetics and issues in the genetic field
• References


  • 12th Edition
  • 11th Edition
  • Cell & Human Genetics (MLS1223)
  • Basic Biochemistry (MGS1133)

  
• Comprehension of


  • Human genetics, associated diseases
  • Basic techniques of human genetics
• Level of genetics


  Cell and Genetics
• Cells are the basic building blocks of all living things
• The human body is composed of around trillions of cells
• Cells provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions
• Organelles: function & structure

  • Transportation across the cell membrane
  • Membrane Transport
  • Passive Transport
  • Active Transport
• Transportation across the cell membrane

  1. Simple diffusion

  2. Facilitate diffusion

  3. Osmosis

  4. Ion pumps

  5. Co-transport

  6. Endocytosis

  7. Phagocytosis

  8. Pinocytosis

  9. Receptor-mediated
• The cell cycle


  1. Interphase (G1, S, G2)

  2. Prophase

  3. Metaphase

  4. Anaphase

  5. Telophase

  6. Cytokinesis

  7. G0
• Mitosis


  A type of cell division that results in two daughter cells each having the same number and kind of chromosomes as the parent nucleus, typical of ordinary tissue growth and repair
• Apoptosis


  A form of programmed cell death in which a series of molecular steps in a cell lead to its death
• Apoptosis


  1. Signal Transduction

  2. Cellular Adhesion
• Signal Transduction


  The process by which a chemical or physical signal is transmitted through a cell as a series of molecular events
• Cellular Adhesion


  The binding of a cell to a surface, such as an extracellular matrix or another cell, using cellular adhesion molecules (CAMs)
• General Terms In Genetics

  • Genome
  • Genomics
  • Chromosome
  • Autosome
  • Sex chromosome
  • Karyotype
  • DNA
  • Gene
  • Exon
  • Intron
  • Allele
  • Genetic code
• Genome


  The complete set of genes of an organism
• Genomics


  The study of the functions and interactions of many genes, DNA sequences, comparing genomes

  
• Chromosome


  A highly wound continuous molecule of DNA and the proteins wrapped around it
• Autosome


  A chromosome that does not have a gene that determines sex
• Sex chromosome


  A chromosome containing genes that specify sex
• Karyotype


  The number and appearance of chromosomes in the nucleus of a eukaryotic cell

  
• DNA


  Deoxyribonucleic acid: The genetic material or biochemical that forms genes
• Gene


  A segment of DNA that instructs a cell to produce a particular protein
• Exon


  Part of a gene that encodes amino acids
• Intron


  Part of a gene that is transcribed but is excised from the mRNA before translation into protein
• Allele


  A different form of a gene that occupies the same locus, or position, on chromosomes
• Genetic code


  The correspondence between specific mRNA triplets and the amino acids they specify
• General terms in genetics

  • Nucleotide
  • Nucleoside
  • Single nucleotide polymorphisms
  • Mutation
  • Heterozygous
  • Homozygous
  • Genotype
  • Phenotype
  • Gamete
• Nucleotide


  The building block of a nucleic acid, consisting of a phosphate, a nitrogenous base, and a 5-carbon sugar
• Nucleoside


  Consists of a nitrogenous base covalently attached to a sugar (ribose or deoxyribose) but without the phosphate group
• Single nucleotide polymorphisms


  Single base sites that differ among individuals
• Mutation


  A change of the nucleotide sequence of the genome of an organism
• Heterozygous


  Having two different alleles of a gene
• Homozygous


  Having two identical alleles of a gene
• Hemizygous


  Having only a single copy of a gene instead of the customary two copies
• Genotype


  The genetic make-up of an organism, the allele combinations in an individual that cause particular traits or disorders
• Phenotype


  The expression of a gene in traits or symptoms, the physical manifestation of an inherited trait or disease
• Gametes


  Sex cells, such as ovum and sperm