Difference between revisions of "Libre Pathology talk:Study Group"
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{{hidden|List and describe the possible outcomes of trinucleotide repeat mutations. | {{hidden|List and describe the possible outcomes of trinucleotide repeat mutations. | ||
a. Usually G&C, dynamic and increase during gametogenesis, “RNA stutters” | a. Usually G&C, dynamic and increase during gametogenesis, “RNA stutters” | ||
b. Fragile X – CGG 250-4000, Huntinton’s Disease * See Neuropath Notes | b. Fragile X – CGG 250-4000, Huntinton’s Disease * See Neuropath Notes]]</center>}} | ||
{{hidden|List and describe three examples of inheritance of single gene mutations | {{hidden|List and describe three examples of inheritance of single gene mutations | ||
a. AD – manifested in the heterologous state, one parent of index case is usually affected, males and females affected and both can transmit condition | a. AD – manifested in the heterologous state, one parent of index case is usually affected, males and females affected and both can transmit condition |