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ABCTE General Science Sample Test

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Huntington’s Disease is a heritable illness that destroys neurons and causes movement and behavioral disorders. If a person has a single copy number of the abnormal Huntington gene, and they live long enough, they will certainly develop the Disease. Based on the information above, which of the following describes Huntington’s Disease?

Correct Answer:

100% penetrant.

huntington’s disease is a heritable illness that is characterized by the degeneration of neurons, leading to movement disorders and various behavioral symptoms. this genetic disorder is particularly notable because it follows an autosomal dominant pattern of inheritance and exhibits 100% penetrance. this means that the presence of just one copy of the mutated gene on one of the autosomes (non-sex chromosomes) is sufficient to cause the disease. autosomal dominant diseases do not depend on the sex of the individual, which means both males and females are equally likely to inherit the disorder.

the term "100% penetrant" refers to the probability that individuals who carry the abnormal gene will exhibit the disease symptoms if they live long enough. in the case of huntington's disease, every person who inherits the mutated gene will eventually develop the disease, assuming they live to the typical age of onset. this complete penetrance is a critical aspect in understanding the genetic risk and management of the disease.

it is important to contrast this with other modes of genetic inheritance: - **autosomal recessive** disorders require two copies of the faulty gene (one from each parent) for the disease to manifest. if huntington’s disease were autosomal recessive, individuals with only one copy of the mutated gene (heterozygotes) would not show symptoms—they would be carriers without the disease. - **x-linked recessive** disorders are associated with genes located on the x chromosome. in these disorders, females (who have two x chromosomes) are typically carriers if they have one mutated gene, while males (with one x and one y chromosome) with the mutated gene on their x chromosome are likely to express the disease. huntington’s disease does not follow this pattern as it is not linked to the sex chromosomes.

the discussion about penetrance is also vital. unlike some genetic conditions which might show incomplete penetrance (where not all individuals with the mutated gene exhibit the phenotype), huntington's disease does not vary in this way; its 100% penetrance means that genetic testing for the mutation can predict the development of the disease.

given these characteristics, the correct description of huntington’s disease is that it is an autosomal dominant disorder with 100% penetrance. understanding this inheritance pattern is crucial for genetic counseling and for affected families to make informed decisions regarding health monitoring, care, and potential family planning.