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
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