Would You Do It?

[HotI]

My uncle suffers from a severe case of Muscular Distrophy. My dad is a carrier for X-linked resessive gene which means I have a 50% chance of also being a carrier. This means that females in our family cannot get Muscular Distrophy (our healthy X overrides the mutuated X), however we can pass the gene onto our sons who could in turn get the illness (we can pass on our mutuated X instead of our healthy X).

ETA: I am getting my doctor to order a blood test when I see him tonight so I will know within the next month if I am a carrier or not.

Hi Amy

If your Dad is a carrier for the condition, this means that on his (one) X chromosome, the gene is impaired (has the mutation). Does your Dad have muscular dystrophy?

To get your DNA tested for the family mutation, the lab needs to know where on the gene the mutation is (ie they need your Uncle's genetic test results). You may have to attend a genetics clinic, so that they can get the info on the specific family mutation first so they can test your DNA.

There are options available to you if you find you are a carrier, and you might benefit from seeing a genetic counsellor who can explain all the options. Some of these options have already been mentioned by other BB women, but a genetic counsellor can explain which options are open to you with your particular family condition/mutation.

Take care,

kate

ETA: SNAP, Tish we were posting at the same time.