Part II-Autosomal Dominant Traits "Great, so this looks like an accurate representation of your family, right?" Dr. Ciletti asked. "Looks good to me," replied Greg. "My family is so small, there's not much to miss until you get to my grandparents," said Olga. "Well, factor VIII deficiency and myotonic dystrophy are inherited in completely different ways. Come to think of it, you asked about CF as well and ..." "CF" asked Greg. "Cystic fibrosis," Dr. Ciletti continued. "I was about to say that cystic fibrosis is inherited in a manner different than both of the other diseases you are concerned about, but let's tackle them one at a time." "Myotonic dystrophy is an autosomal dominant disease and it is the easiest to pick out of a pedigree. Now Greg, even though you have an uncle and aunt as well as a grandmother who all have the disease, you don't and there is no way that you will pass this disease on to your children. So that is the first piece of good news." "But don't a lot of genetic diseases skip a generation?" Greg asked. "And even if it doesn't, my mom has two siblings with the disease. Could she be a carrier and just pass the disease on to me? For that matter, could I be a carrier?" "Yes, could he be a carrier?" Olga added. "Absolutely not," Dr. Ciletti said. "Let me show you why." Questions 1. Do autosomal dominant disorders skip generations? 2. Could Greg or his mother be carriers of the gene that causes myotonic dystrophy? 3. Is there a possibility that Greg's aunt or uncle is homozygous for the myotonic dystrophy (MD) gene?

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Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

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Please help with part II of this case study (this is not a test but a homework assignment)

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Part II-Autosomal Dominant Traits
"Great, so this looks like an accurate representation of your family, right?" Dr. Ciletti asked.
"Looks good to me," replied Greg.
"My family is so small, there's not much to miss until you get to my grandparents," said Olga.
"Well, factor VIII deficiency and myotonic dystrophy are inherited in completely different ways. Come to think of it,
you asked about CF as well and ..."
"CF" asked Greg.
"Cystic fibrosis," Dr. Ciletti continued. "I was about to say that cystic fibrosis is inherited in a manner different than
both of the other diseases you are concerned about, but let's tackle them one at a time."
"Myotonic dystrophy is an autosomal dominant disease and it is the easiest to pick out of a pedigree. Now Greg, even
though you have an uncle and aunt as well as a grandmother who all have the disease, you don't and there is no way
that you will pass this disease on to your children. So that is the first piece of good news."
"But don't a lot of genetic diseases skip a generation?" Greg asked. "And even if it doesn't, my mom has two siblings
with the disease. Could she be a carrier and just pass the disease on to me? For that matter, could I be a carrier?"
"Yes, could he be a carrier?" Olga added.
"Absolutely not," Dr. Ciletti said. "Let me show you why."
Questions
I. Do autosomal dominant disorders skip generations?
2. Could Greg or his mother be carriers of the gene that causes myotonic dystrophy?
3. Is there a possibility that Greg's aunt or uncle is homozygous for the myotonic dystrophy (MD) gene?
4. Symptoms of myotonic dystrophy sometimes don't show up until after age fifty. What is the possibility that
Greg's cousin has inherited the MD gene?
5. What is the possibility that Greg and Olga's children could inherit the MD gene?
References
Myotonic Dystrophy Fact Sheet
http://www.mda.org.au/specific/mdamyt.html
Human Genetics for First Year Students: Pedigree Construction
http://www.uic.edu/classes/bms/bms655/lesson3.html
"In Sickness and in Health" by Barry Chess
Page 3

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