LeeAnn Cheatham

Math 1030
Final Project

For my final project I chose the topic of recessive genetics. How are conditions passed from one
generation to the next. I chose this topic because I have 4 biological children with 3 of them
being affected with an autoimmune disease and 1 child not affected but possibly a carrier. At
the time that I was having my children, doctors diagnosed my 3 children with a condition they
said to be a recessive genetic condition. What does this mean? According to Genetic Home
Reference, Your Guide to Understanding Genetics Conditions Alpers Syndrome is a condition
inherited through an autosomal recessive pattern. This means that both copies of the gene in
each cell have mutations. The parents of a child with Alpers, which is an autosomal recessive
condition are each a carrier of one copy of the mutated gene. But like both myself and the father
of my children, neither one of us show signs and symptoms of the condition.

This chart shows what the offspring of an unaffected carrier father and an unaffected carrier
mother would be. It says that 25% will be unaffected, 50% will be unaffected carriers and
25% will be affected. Doctors told us that with each child there was a 75% chance of the child
being affected.
This did not make sense to me since 3 of my 4 children were affected by the condition and 1 of
them is either unaffected or an unaffected carrier. My daughter, who is either unaffected or an
unaffected carrier is now the mother of 3 children. Her husband is not affected or a carrier.

This chart shows what the offspring of a father without the gene and an unaffected carrier
mother would be. 25% will be a daughter who is an unaffected carrier , 50% will be a
daughter and a son who will be unaffected and non-carriers and 25% will be affected.
This is concerning to me because even though the numbers did not add up in my situation, how
accurate is the information in my daughters situation. Because we have not had any genetic

testing done to determine if my daughter is a carrier or not there is no way to tell if this pattern
is consistent or not. So far her children appear unaffected but it is not known whether they are
carriers or not. Will this condition affect future generations? With little information about
who is or who is not carriers this information may not be known for many years.
Even when I crossed the genes of both parents having the recessive gene, it would be rr, rr, rr, rr.
Which means that 100% of the children would be affected. Only 75% of my children were
affected. Genetics are confusing to me.
References:
http://www.chw.org/~/media/Images/MedicalCare/HealthInformation/Autosomal%20recessive.gif
http://www.chw.org/~/media/Images/MedicalCare/HealthInformation/x%20linked%20recessive.gif
http://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome