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Mutation & Genetic Disorders
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Mutation & Genetic Disorders

Mutation

  • A change in the DNA sequence that may affect whole chromosomes or just one gene.

Kinds of Mutation

Causes of Mutation

  • DNA fails to copy accurately
  • External influnces
    • Chemicals
    • Radiation
    • Infectious agents

Gene Mutation

Two Classifications:

  • Hereditary Mutation
    • A mutation inherited from the parents.
    • Also known as germline mutations.
  • Acquired Mutations
    • Caused by external factors.
    • Also known as somatic mutations.

Types of Mutations:

Deletion Mutation

  • When a single nucleotide gets deleted and the whole sequence gets shifted to the left.
  • Can cause Cat's Cry Syndrome, Cystic Fibrosis.

Insertion Mutation

  • When a single nucleotide gets inserted and the whole sequence gets shifted to the right.
  • Can cause Huntington's disease.

Inversion Mutation

  • When a chromosome breaks out and is reinserted backwards.
  • Can cause Haemophilia.

Translocation Mutation

  • When a part of the chromosome breaks off and is added to a different chromosome.
  • Can cause Alagille's Syndrome, problems in the liver due to irregular bile secretions, and Burkitt Lymphoma.

Missense Mutation

  • When a single nucleotide gets replaced by a different nucleotide causing the wrong amino acid.
  • Can cause Sickle Cell Anemia, Tay-Sachs Disease

Nonsense Mutation

  • When a single nucleotide gets replaced by a different nucleotide making a stop codon causing the sequence to be shortened.

Frameshift Mutation

  • When the reading of the DNA bases gets shifted causing a different sequence.

Repeated Expansion Mutation

  • When nucleotide are repeated several times causing a repeated amino acid in the sequence.
  • Can cause malfunctioned proteins.

Duplication Mutation

  • When a certain piece of the DNA is abnormally copied several times.
  • Can cause Charcot-Marie-Tooth Disease.

Chromosomal Mutation

  • Unpredictable change that happens to the chromosome.
  • Often occurs during meiosis by mutagens.
  • Can result in changes in the number of chromosomes or changes in the structure of a chromosome.

Autosomal Aneuploidy

  • Causes an abnormal number of chromosomes.
    • Monosomy
    • Trisomy
  • Caused by problem during meiosis

Errors in Disjunction

  • Non-Disjunction
    • Failure of homologous chromosome to seperate properly during meiosis

Trisomy 21

  • Extra Chromosome on number 21.
  • AKA Down Syndrome
  • Flattened Nose and Face, Upward slanting of eyes.
  • Can be caused by the mother's age.

Trisomy 18

  • Extra Chromosome on number 18
  • AKA Edward Syndome
  • Small Head, Cleft Palate, Sterile.

Trisomy 13

  • Extra Chromosome on number 13
  • AKA Patau's Syndrome
  • Small Head, Low-set Ears, Heart defects, Brain development problems.

Klinefelter Syndrom

  • Extra sex chromosome.
  • Longer fingers and arms, Delicate Skin, Sterile.
  • Tends to have a normal lifespan.

Monosomy

  • Deficient number of chromosomes

Turner's Syndrome

  • Missing a chromosome in the sex chromosome.
  • Rudimentary ovaries, Constricted aorta, No menstruation, Unusual facial features, Sterile.

Albinism

  • Inability to produce melanin.
  • Vulnerable to skin cancers.

Autosomal Disorders

  • Amyotrophic Lateral Scleerosis (ALS)
  • Breast Cancer
  • Polycystic Kidney Disease
  • Alzheimer Disease
  • Sickle-Cell Anemia
  • Phenylketonuria (PKU)
  • Melanoma
  • Cystic Fibrosis

Other Forms of Genetic Disorders

  • Cleft Palate
  • Heart Disease
  • Obesity
  • Infertility
  • Cancers
  • Asthma
  • Intellectual Disability
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