Angelman syndrome is caused by a mutation in a paternally imprinted gene on chromosome 15. Which of the following statements is true? Select all that apply. Deletion of the paternal gene copy (but normal maternal copy) could produce the syndrome Children of affected females have a 50% chance of showing the syndrome Meiotic nondisjunction of a normal paternal chromosome 15 accompanied by loss of a normal maternal chromosome 15 in a zygote could produce the syndrome Meiotic nondisjunction of a normal maternal chromosome 15 accompanied by loss of a normal paternal chromosome 15 in a zygote could produce the syndrome Children of affected males have a 50% chance of showing the syndrome Deletion of the maternal gene copy (but normal paternal copy) could produce the syndrome

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12-12-2022
Biology

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Angelman syndrome is caused by a mutation in a paternally imprinted gene on chromosome 15. Which of the following statements is true? Select all that apply. Deletion of the paternal gene copy (but normal maternal copy) could produce the syndrome Children of affected females have a 50% chance of showing the syndrome Meiotic nondisjunction of a normal paternal chromosome 15 accompanied by loss of a normal maternal chromosome 15 in a zygote could produce the syndrome Meiotic nondisjunction of a normal maternal chromosome 15 accompanied by loss of a normal paternal chromosome 15 in a zygote could produce the syndrome Children of affected males have a 50% chance of showing the syndrome Deletion of the maternal gene copy (but normal paternal copy) could produce the syndrome

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contexto1212 contexto1212 · Answer 1 · 2022-12-17T07:23:49+01:00

The following statements are true for the production of Angelman syndrome:

2. Children of affected females have a 50% chance.

3. Meiotic nondisjunction of a normal paternal chromosome 15 accompanied by loss of a normal maternal chromosome 15

6. Deletion of the maternal gene copy

The mutated or missing maternal copy of a portion of chromosome 15 causes Angelman syndrome. Most of the time, it is because of the gene UBE3A, which is on chromosome 15 at the 15q11 to 15q13 locus. It encodes the ubiquitin protein, which is necessary for the electron transport chain and various functions of the cell membrane.

In most cases, this father-inherited gene is deactivated in the cortex, thalamus, and hippocampus of the brain. In these regions, the only source of genetic information for ubiquitin synthesis is the maternal gene. Therefore, neurological symptoms result from any mutation or deletion of this gene or a portion of chromosome 15 in the maternal gamete. The offspring are unaffected by mutations in the paternal gamete.

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