What is the gene in Myotonic Dystrophy type 1? What chromosome?
More than ____ CTG repeats indicates full penetrance.
What is the repeat seen in Huntington Disease?
If you have ____ CAG repeats, you are normal. If you have between _______, you are intermediate. Full penetrance is seen after ______ repeats.
less than 27; 27-39; 39 or more
What is the incidence rate of Huntington Disease?
Myotonic Dystrophy type 1 incidence rate?
Name 2 trinucleotide repeat diseases.
1) Huntington Disease 2) fragile X
Myotonic Dystrophy type 1 is _______ biased.
expansion of a DNA segment of 3+ nucleotides over and over again
get worse in successive generations (more repeats or earlier onset)
What is the transmission bias in Huntington Disease?
What are the clinical manifestations of Myotonic Dystrophy type 1?
myotonia, cataracts, progressive muscular wasting
Name diseases that shows anticipation.
Huntington Disease, Myotonic Dystrophy type 1
muscles can't release
What is the gene and protein in Huntington Disease? Where is it located?
HTT; Huntingtin; chromosome 4
parental transmission bias
may be linked to paternal or maternal transmission
Myotonic Dystrophy type 1 is a trinucleotide repeat disorder with increased _____ repeats.
What are the clinical manifestations of Huntington Disease?
normal until progressive neuronal degeneration begins around age 35, death w/i 15 years, chorea
mispairing of bases coupled with inadequate DNA repair