Angelman Syndrome is caused by a mutation in a paternally imprinted gene. A. If
ID: 100643 • Letter: A
Question
Angelman Syndrome is caused by a mutation in a paternally imprinted gene.
A. If a female is heterozygous for the mutation in the imprinted gene will she have the disorder or not? Explain
B. Suppose a spontaneous mutation occurs in the gene responsible for Angelman syndrome in the gametes of a male. He does not have the disorder himself because the genes in the rest of his cells are normal. But if he passes the mutation along to his daughter, will she have the syndrome? Explain your answer.
C. Suppose his daughter has the mutant allele and suppose she passes it on to both a daughter and a son. Which of these children, if any, will have the syndrome and why?
Explanation / Answer
A) If a female is heterozygous, which means that she will possess one allele dominant and one allele recessive. She will have only one copy of functional gene UBE3A from one parent is active instead of two active parental gwnes. If this active copy or function of gene lost because of mutation she will have the disease.
B) The father may not have the synndrome as his other genes in the cells are normal. But when he passes his mutant allele to his daughter, she may receive this allele in all or most of the genes in the cells, which results in the loss of fuctional genes in most of cells resulting in the syndrome.