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Question

Neurofibromatosis is a disease that affects both males and females. It causes nerve endings to form a tumorous growth that swells up in size. There is no affinity towards any sex. Also, if one of the parents has it, there is 50% chance that the offspring will suffer from it. What kind of disease is this?


A

Autosomal Dominant

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B

X-Linked Recessive

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C

Autosomal Recessive

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D

X-Linked Dominant

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Solution

The correct option is A

Autosomal Dominant


Neurofibromatosis is a classic case of autosomal dominant disorder. The disease occurs due to the defect in the NF1 gene found on the 17th chromosome. If a person has an autosomal dominant gene mutation, they do not have the ability to make enough of the correct gene product and will have symptoms of the genetic condition from birth or be predisposed to developing the condition later in life (depending on the gene involved). A person needs to inherit only one changed copy of the gene pair in order to be affected with a specific autosomal dominant disorder. The changed copy “dominates” the pair of genes. In an autosomal dominant disorder, one changed copy from one parent causes the child to have the disorder. A person with neurofibromatosis has a 1 in 2 (50 percent) chance of passing on the changed copy of the gene and a 1 in 2 (50 percent) chance of passing on the normal copy of the gene to each child. So, there is a 50-50 chance that each child of a person with neurofibromatosis will inherit the disease. This 50-50 chance is the same for each and every pregnancy. The inheritance pattern is illustrated in the image below.




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