Hereditary Diseases and Inheritance

Study Notes

Hereditary diseases are disorders or conditions that are caused by genetic mutations or variations inherited from one's parents.
These diseases can be passed down from one generation to the next through the transmission of genetic information.

Autosomal Dominant: A single copy of the mutated gene is enough to cause the disease. Examples: Huntington's disease, Marfan syndrome.
Autosomal Recessive: A person must inherit two copies of the mutated gene (one from each parent) to develop the disease. Examples: Cystic fibrosis, sickle cell anemia.
X-linked: The mutated gene is located on the X chromosome, and the disease is more common in males. Examples: Hemophilia, Duchenne muscular dystrophy.
Mitochondrial: The mutated gene is located in the mitochondria, and the disease is passed down from mother to child. Examples: Mitochondrial myopathies, Kearns-Sayre syndrome.

Mutations: Changes in the DNA sequence of a gene, which can be inherited or occur spontaneously.
Genetic recombination: The shuffling of genes during reproduction, which can lead to new combinations of genetic traits.
Chromosomal abnormalities: Changes in the number or structure of chromosomes, such as Down syndrome.

Symptoms vary widely depending on the specific disease and can include physical characteristics, developmental delays, and organ dysfunction.
Diagnosis often involves a combination of:
- Family medical history
- Genetic testing (e.g., DNA sequencing, karyotyping)
- Physical examination
- Laboratory tests (e.g., blood tests, imaging studies)

Treatment options vary depending on the disease and can include:
- Medications
- Surgery
- Gene therapy
- Lifestyle modifications
Management often involves:
- Genetic counseling
- Prenatal testing
- Family planning
- Supportive care

Hereditary diseases are disorders caused by genetic mutations or variations inherited from one's parents.
These diseases can be passed down from one generation to the next through the transmission of genetic information.

Autosomal Dominant: A single copy of the mutated gene causes the disease, e.g., Huntington's disease, Marfan syndrome.
Autosomal Recessive: A person must inherit two copies of the mutated gene to develop the disease, e.g., Cystic fibrosis, sickle cell anemia.
X-linked: The mutated gene is located on the X chromosome, and the disease is more common in males, e.g., Hemophilia, Duchenne muscular dystrophy.
Mitochondrial: The mutated gene is located in the mitochondria, and the disease is passed down from mother to child, e.g., Mitochondrial myopathies, Kearns-Sayre syndrome.

Mutations: Changes in the DNA sequence of a gene, which can be inherited or occur spontaneously.
Genetic recombination: The shuffling of genes during reproduction, leading to new combinations of genetic traits.
Chromosomal abnormalities: Changes in the number or structure of chromosomes, such as Down syndrome.

Symptoms vary widely depending on the specific disease and can include physical characteristics, developmental delays, and organ dysfunction.
Diagnosis involves a combination of:
- Family medical history
- Genetic testing (e.g., DNA sequencing, karyotyping)
- Physical examination
- Laboratory tests (e.g., blood tests, imaging studies)

Treatment options vary depending on the disease and can include:
- Medications
- Surgery
- Gene therapy
- Lifestyle modifications
Management involves:
- Genetic counseling
- Prenatal testing
- Family planning
- Supportive care