MUTATIONS

Cards (33)

  • Mutation - is a change in the DNA sequence of an organism. 
  • Mutagen - alteration of the DNA sequence.
  • Chromosome - chemical substance called deoxyribonucleic/DNA contain 23 pairs
  • Somatic mutation - Refers to a genetic alteration or change that occurs in the cells of an organism's body (somatic cells) other than the reproductive cells
  • Germline mutation - an alteration of the nucleotide sequence of the dna that makes up gene.
  • Chromosomal mutations -  involve changes in the number or structure of chromosomes.
  • Insertion - when genetic material from another chromosome is added.
  • Translocation - happens when a part of chromosome breaks off and combined with another chromosome.
  • Deletion - happens where there is a loss of a part of chromosome.
  • Duplication - happens if there are extra copies of a part of a chromosome
  • INVERSION - happen when the direction of a part of a chromosome is reversed.
  • GENETIC DISORDER - is a health problem caused by one or more abnormalities in the genome.
  • Recessive Disorder - It happens when child receives two defective genes from each parent.
  • Sickle cell anemia - A person who inherits two defective genes will have abnormally shaped red blood cells and may die at an early stage.
  • Tay-sach Disease - is characterized by the lack of an important chemical in the brain. 
  • Cystic fibrosis - is a disease in which some glands produce too much mucus
  • Phenylketonuria - kind of disorder that cannot break down phenylalanine.
  • Sex linked disorders - Are more common in men because they have only one X chromosome , so all defective genes on the chromosome trisomy will be expressed. 
  • Human Genetic Syndrome - There are some genetic disorders that may have few or too many chromosomes.
  • Cri du chat - is caused by the deletion of part of the short arm of chromosome 5. Babies who have this disease have wide set eyes and small head and jaws.
  • William Syndrome - is the result from the lost of segment in chromosome 7. They have large ears and facial features that make them look like elves.
  • Down syndrome - ( trisomy 21 ) also known as Mongolism. A child receives an extra chromosome (chromosome 21) and has distinctive physical appearance. 
  • Edwards syndrome - extra number 18 chromosomes
  • Patau’s syndrome - (trisomy 13) extra copy of chromosomes 13 
  • Klinefelter syndrome - male who has this syndrome has two or more X-chromosome.
  • Turner’s Syndrome - 45 chromosomes (affects only women)
  • Phenotype - are those observable traits such as hair color, eye color, height, blood type, and more.
  • Silent mutation - are mutations in DNA that do not have an observable effect on the organism's phenotype. 
  • Missense mutations - happen when a single nucleotide changes, result in different codes of amino acid.
  • Codon Code - A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genomic information encoding a particular amino acid or signaling the termination of protein synthesis (stop signals). 
  • Causes of mutations - Smoking (cause germ cell mutagens) Effect of old change (Female conceives at old age)
  • Chemotherapy - Drugs can cause DNA mutations.
  • External influences - Too much exposure to hazardous chemicals.