Question

1. How many genetic disorders now identified?

Answer 1

There are a number of different types of genetic inheritance including:

Single gene inheritance:-

• cystic fibrosis,
• sickle cell anemia,
• Marfan syndrome,
• Huntington's disease, and
• hemochromatosis.

Multifactorial inheritance:-

• heart disease,
• high blood pressure,
• Alzheimer's disease,
• arthritis,
• diabetes,
• cancer, and
• obesity.

Chromosome abnormalities:-

• Turner syndrome (45,X0),
• Klinefelter syndrome (47, XXY), and
• Cri du chat syndrome, or the "cry of the cat" syndrome (46, XX or XY, 5p-).

Mitochondrial inheritance:

• an eye disease called Leber's hereditary optic atrophy;
• a type of epilepsy called MERRF which stands for myoclonic epilepsy with Ragged Red Fibers; and
• a form of dementia called MELAS for mitochondrialencephalopathy, lactic acidosis and stroke-like episodes.