Gaucher disease is an early onset rare autosomal recessively inherited lysosomal storage disorder (LSD). An adult woman who has no symptoms but has two affected brothers is referred for genetic counselling. Which of the following is correct? Oa. Before any carrier testing is carried out the woman can be correctly informed that the probability that her first son will be affected is 1 in 4. b. With two affected brothers the probability of her being a carrier is 1. Oc. If she is a carrier then the probability that each of her sons and each of her daughters will be affected is 1 in 4. Od. The probability that she is a carrier is 1/2 Oe. The probability that she is a carrier is 2/3.

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Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.