10 Genetic Disorders and Their Inheritance

10 Genetic Disorders and Their Inheritance

In the intricate world of genetics, various disorders arise from specific chromosomal anomalies. This blog explores ten such genetic disorders, detailing their chromosomal locations, affected genes, and inheritance modes.

1. Cystic Fibrosis
  1. Inheritance: Autosomal Recessive
  2. Chromosome: 7
  3. Gene: CFTR
  4. Symptoms: Thick mucus in lungs and digestive system
  5. Source: Stanford Children’s Health
2. Sickle Cell Anemia
  • Inheritance: Autosomal Recessive
  • Chromosome: 11p15.5
  • Gene: HBB
  • Symptoms: Anemia, pain, swelling, and frequent infections
  • Source: National Center for Biotechnology Information
3. Huntington’s Disease
  • Inheritance: Autosomal Dominant
  • Chromosome: 4
  • Gene: HTT
  • Symptoms: Movement disorders, cognitive decline, psychiatric problems
  • Source: MedlinePlus
4. Down Syndrome
  • Inheritance: Chromosomal Disorder (Trisomy 21)
  • Chromosome: 21
  • Symptoms: Intellectual disability, distinctive facial features, heart defects
  • Source: National Human Genome Research Institute
5. Hemophilia
  • Inheritance: X-linked Recessive
  • Chromosome: X
  • Gene: F8 or F9
  • Symptoms: Excessive bleeding, easy bruising, joint pain
  • Source: Centers for Disease Control and Prevention
6. Marfan Syndrome
  • Inheritance: Autosomal Dominant
  • Chromosome: 15
  • Gene: FBN1
  • Symptoms: Connective tissue problems, cardiovascular issues, tall stature
  • Source: National Center for Biotechnology Information

7. Fragile X Syndrome

  • Inheritance: X-linked Dominant
  • Chromosome: X
  • Gene: FMR1
  • Symptoms: Intellectual disability, learning challenges, unique physical features
  • Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development

8. Tay-Sachs Disease

  • Inheritance: Autosomal Recessive
  • Chromosome: 15
  • Gene: HEXA
  • Symptoms: Neurological problems, muscle weakness, developmental delay
  • Source: National Center for Biotechnology Information
  1. Color Blindness
    • Inheritance: X-linked Recessive
    • Chromosome: X
    • Symptoms: Difficulty distinguishing certain colors
    • Source: Cleveland Clinic
  2. Turner Syndrome
  • Inheritance: Chromosomal condition
  • Chromosome: X
  • Symptoms: Short stature, infertility, heart defects
  • Source: National Human Genome Research Institute

This overview offers a glimpse into the diverse world of genetic disorders, highlighting the importance of understanding genetic inheritance for diagnosis and treatment.

References

  1. Stanford Children’s Health. (n.d.). The Genetics of Cystic Fibrosis. Retrieved from https://www.stanfordchildrens.org
  2. National Center for Biotechnology Information. (n.d.). Anemia, sickle cell – Genes and Disease. Retrieved from https://www.ncbi.nlm.nih.gov
  3. MedlinePlus. (n.d.). Huntington’s Disease. Retrieved from https://medlineplus.gov
  4. National Human Genome Research Institute. (2017). About Down Syndrome. Retrieved from https://www.genome.gov
  5. Centers for Disease Control and Prevention. (2023). How Hemophilia is Inherited. Retrieved from https://www.cdc.gov
  6. National Center for Biotechnology Information. (n.d.). Marfan Syndrome – StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov
  7. Eunice Kennedy Shriver National Institute of Child Health and Human Development. (n.d.). Fragile X Syndrome. Retrieved from https://www.nichd.nih.gov
  8. National Center for Biotechnology Information. (n.d.). Tay-Sachs disease – Genes and Disease. Retrieved from https://www.ncbi.nlm.nih.gov
  9. Cleveland Clinic. (2023). Color Blindness: Types, Causes & Treatment. Retrieved from https://my.clevelandclinic.org
  10. National Human Genome Research Institute. (2013). About Turner Syndrome. Retrieved from https://www.genome.gov