Presented by Janel Phetteplace MS CGC Janel Phetteplaceuiowaedu Overview of Genetics Genes DNA Comprise Each Chromosome Cell Chromosome DNA DMPK Gene Inheritance ID: 637534
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Genetics & Myotonic Dystrophy
Presented by : Janel Phetteplace, MS, CGCJanel-Phetteplace@uiowa.eduSlide2
Overview of GeneticsSlide3
Genes (DNA) Comprise Each Chromosome
Cell
Chromosome
DNASlide4
DMPK
Gene
Inheritance
Autosomal dominant, maternal anticipation
Offspring of affected individual have 50% of inheriting the altered
DMPK
gene
Myotonin-protein kinase
Myotonic Dystrophy (MD)
Slide5Slide6Slide7
CTG RepeatsSlide8
Anticipation in Myotonic DystrophySlide9
Myotonic dystrophy type 2Slide10Slide11
Autosomal Dominant Inheritance
Unaffected Affected Unaffected Affected
Affected
UnaffectedSlide12
Family Planning Options
Biological childrenDuring Pregnancy:Chorionic Villus Sampling (CVS)As early as 10 weeksAmniocentesisTypically past 15 weeks
Maternal fetal cell analysis
Not yet available
Before Pregnancy:
Preimplantation Genetic Diagnosis (PGD
)
Costs ~$20,000 - $25,000
Donation/adoptionDonor optionsSperm donation (banks)Costs ~$1,000Egg donationCosts ~$15,000 - $50,000Embryo Adoption
Costs ~$10,000 - $15,000Traditional AdoptionCosts ~$10,00 - $40,000Slide13
Prenatal DiagnosisSlide14
Preimplantation Genetic Diagnosis