Danielle has a PhD in Natural Resource Sciences and a MSc in Biological Sciences
What is a Proband?
Katie and John have their first baby together - a little boy named Caleb. Much to their surprise, Caleb is born with cystic fibrosis and is the first person in either of their families to have this condition. What does this mean? Well, Caleb is their proband.
A proband isn't so much a 'what' as a 'who.' Specifically, it is the first person in a family who is treated for a genetic disorder. Even if other family members have the condition, the proband is the family member who is being treated and is like the 'patient zero,' bringing the condition to light. Caleb is now the proband of Katie and John's family, and they have learned they are carriers of genes that may combine to develop future children with cystic fibrosis.
Once one person in a family is diagnosed with a genetic disorder, other members of the family can begin screening to see if they too are affected or are potential carriers. In some cases, the term proband will not refer to the first diagnosed person; rather it will refer to the ancestor first known to have the disorder as well, but this is a less-common definition. For the purposes of this lesson, a proband will refer to the first person diagnosed with the disorder who is seeking treatment. Male and female probands have different terms, with a male being the 'proposito' or 'propositus' and a female being a 'proposita.'
Probands can begin undergoing treatment and testing for their disease, which can then be used to help treat future family members who may carry the genetic combination creating the disorder. Tracking medical ailments throughout a family tree can also help identify possible genetic disorders lurking in that family's gene pool. Tracking different traits throughout a family is called developing a family pedigree, and this is one of the most effective ways to identify the presence of disorders.
What Types of Diseases Have Probands?
Any genetic disorder can have a proband. Conditions such as cystic fibrosis, autoimmune disorders, and vitiligo are all examples of genetic disorders. In some cases, a positive carrier of a disease may prompt the research and testing of a family member who doesn't carry that same disease so that treatment options may be developed.
So what is a proband? It is the first person in a family who is diagnosed with a genetic disorder. Usually they are looking for some type of treatment to address the problem. Tracking family traits and characteristics through a family pedigree can help identify who the carriers are and who may be affected in future generations. The example of John and Katie having a baby with cystic fibrosis is just one example you can keep in mind to understand what a proband is. Caleb is a proband! John and Katie now know these genes run in their family and can screen accordingly for future health.
To unlock this lesson you must be a Study.com Member.
Create your account
Register to view this lesson
Unlock Your Education
See for yourself why 30 million people use Study.com
Become a Study.com member and start learning now.Become a Member
Already a member? Log InBack