Basics Flashcards by Sarah Fuller

Q

Write short notes on Pathogenic effects of gene variants in 5’or 3’untranslated regions

A

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Q

One gene can cause several syndromes and several syndromes can be caused by more than one gene. Discuss with examples.

A

LKJ

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Q

Describe Non sense mediated RNA decay and the relevance to human disease, clinical diagnostic testing or gene identification

A

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Q

Describe X-inactivation and the relevance to human disease, clinical diagnostic testing or gene identification

A

,m

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Q

Briefly explain the meaning of gene conversion, giving examples drawn from human molecular pathology.

A

lkj

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