Genetics of Myotonic Dystrophy

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Genetics of MyotonicMDF Myotonic Dystrophy DAYUniversity of Florida GainesvilleDeborah Barbouth MD FACMGGJune 29th 2019.
Genetics 101 Chromosomes What causes Myotonic Dystrophy Expansion of CTG in the DMPK gene protein kinase for DM1.
Expansion of CCTG tetranucleotideCNBP ZNF9 gene for DM2 Repeat expansion One nucleotide is one letter in the gene A T C or G.
Trinucleotide repeat expansion One nucleotide is one letter in the gene A T C or G Trinucleotide is 3 nucleotides CAG CGG CTG CTA etc .
Trinucleotide repeat expansion One nucleotide is one letter in the gene A T C or G Trinucleotide is 3 nucleotides CAG CGG CTG CTA etc .
Trinucleotide repeat is a region of thesame 3 nucleotides over and over again CTGCTGCTG Trinucleotide repeat expansion One nucleotide is one letter in the gene.
A T C or G Trinucleotide is 3 nucleotides CAG CGG CTG CTA etc Trinucleotide repeat is a region of thesame 3 nucleotides over and over again.
CTGCTGCTG We expect everyone to have differentnumbers of repeats but within thenormal range Trinucleotide repeat expansion.
When the repetition of three nucleotides in agene gets too big and causes the gene to nolonger function properlyNussbaum McInnes and Willard Thompson and Thompson Genetics in Medicine Autosomal Dominant Inheritance.
Some interesting facts Anticipation is the phenomenon thatthe symptoms become more severe orstart at an earlier age as a disease ispassed on to the next generation.
Father vs Mother The likelihood ofrepeat expansion differs betweenspermatogenesis and oogenesis Myotonic Dystrophy 1Schaaf Zschocke and Potocki Human Genetics From Molecules to Medicine.
Family planning options Conceive naturally CVS or Amnio In vitro fertilization with preimplantationgenetic testing.
Costly Adoption sperm egg donation etc IVF with Preimplantation Genetic Go through the IVF procedure Once embryos are obtained they are.
tested for DM Lab may ask for samples from additionalfamily members Those embryos that test negative for DMare implanted.
No guaranteehttps www iasoivf com Thank youNussbaum, McInnes and Willard; Thompson and Thompson, Genetics in Medicine , The Slipped mispairing mechanism. Happen when the cells in the parent’s egg/sperm incorrectly copy the number of CTG repeats the parent has. Autosomal Dominant Inheritance. Repetitions of three nucleotides (e.g., CAGCAGCAG…CAG or CCGC-CGCCG) of 5 to 30 repeats. ...

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