The Family Pedigree Analysis, Research Paper Example

After carefully analyzing my family pedigree, there are two important trends to notice with regards to diseases passed along throughout the family.  The first disease of note is on my parental side by which there are chronic cases of Stroke or Brain Attack.  In the case of my uncle, it is likely that this was caused by a developed brain tumor.  However, a more interesting disease on my maternal side comes from the chronic issue of high cholesterol.  As mentioned in a previous lab assignment, current research shows that high cholesterol can not only be inherited, but it can also lead to inherited disorders such as familial Hyperlipidemia and Hypercholesterolemia.

Due to the extent of the low and uncommon prevalence of high cholesterol in my family, it appears as though the occurrence of high cholesterol follows an autosomal recessive mode of inheritance.  It currently has only proven to be present in my maternal family starting with my grandfather and most recently prevalence has appeared in my mother.  According to BiologyReference.com (2008), “parents of affected individuals are unaffected carriers” whenever an autosomal recessive mode of inheritance exists for a disease.  Furthermore, “each of the parent’s offspring has a 25 percent chance of inheriting the illness and a 75 percent chance of being unaffected” (BiologyReference.com, 2008).  My mother was one of six children from my grandparents as was the only child to share high cholesterol with my grandfather.  It would appears that the autosomal recessive inheritance is correct in this case because of this fact.

In this scenario, it does not appear that the mutation is a compound heterozygous mutation because there is no prevalence or previous history of high cholesterol in my paternal family.  Therefore, the mutation must be heterozygous and most of the infected individuals are unaffected carriers of the gene and there are no visible signs of high cholesterol.  With this in mind, this could point to the fact that not only am I a potential carrier, but so too may be my siblings.  If I am an unaffected carrier, it is unclear whether the mutation will be passed on to my children and whether they will be homozygous or heterozygous for high cholesterol.

Perhaps a stronger knowledge of my pedigree would be useful to understand whether high cholesterol in my maternal family was originally autosomal recessive or dominant.  Because only my grandfather had high cholesterol, not my grandmother, evidence appears to show that the inheritance was autosomal recessive, although there is the possibility that this could have mutated differently in my family.  The main problem associated with compiling my pedigree was the lack of attention that my family has paid to such diseases because they are often rare in the family.  Many of my siblings and parents’ siblings could not recall their parents’ health histories.  My pedigree accuracy was slightly compromised because of this.  There may be additional health issues within the family that we are not aware of.  I believe that I can tell my children that their chances of high cholesterol are fairly low.  They may turn out to be unaffected carriers and show no signs of high cholesterol, but they should still maintain a healthy and active lifestyle to counter the issues associated with high cholesterol just to be safe.

References

BiologyReference.com. (2008). Pedigrees and modes of inheritance. Retrieved from http://www.biologyreference.com/Oc-Ph/Pedigrees-and-Modes-of-Inheritance.html

Rodriguez, D. (2009, June 17). High cholesterol: are your genes to blame?. Everyday Health, Retrieved from http://www.everydayhealth.com/high-cholesterol/high-cholesterol-are-genes-to-blame.aspx