Lecture 33 Genetics - X Linked Inheritance

Lecture 33 Genetics - X Linked Inheritance - U nderstand...

Info iconThis preview shows pages 1–2. Sign up to view the full content.

View Full Document Right Arrow Icon
Understand the concept of stable and unstable mutations Understand expressivity of mutations and basis for disease Describe how diseases can be caused by the expansion of simple DNA repeats Vocab repeat, anticipation, fragile site, expansion, genetic instability, gain-of-function, loss-of-function Outline - Overview of repeats, diseases, classification - Fragile X syndrome = example of loss-of- function repeat disease - Huntington’s disease = example of protein gain-of-function repeat disease a) four aspects of CAG – polyglutamine diseases - Myotonic dystrophy and the other RNA gain-of- function repeat diseases - Summary slides for three different disease types - Repeat expansion disease o Fragile X syndrome of mental retardation o FRAXE mental retardation o X-linked spinal and bulbar muscular atrophy o Myotonic dystrophy 1 and 2 o Huntington’s disease 1 and 2 o Dentatorubral pallidoluysian atrophy o Friedreich’s ataxia o Oculopharyngeal muscular dystrophy o Myoclonic epilepsy of unverricht-Lundborg o Spinocerebellar ataxia types 1, 2, 3, 6, 7,8, 10, 12, 17 - Disease repeats vary in sequence composition and length o Most are trinucleotides; however, tetranucleotides, pentanucletodies, and 12-mer repeats also
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Image of page 2
This is the end of the preview. Sign up to access the rest of the document.

Page1 / 3

Lecture 33 Genetics - X Linked Inheritance - U nderstand...

This preview shows document pages 1 - 2. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online