Solving the Puzzle

Solving the Puzzle in Boston

Solving a piece of the puzzle

We have had great news from the doctors at Boston Children’s Hospital that they have found the gene that causes Kartageners in Aaron and I. The gene is heatr2 gene. The particular gene we have was only discovered late last year in Pennsylvania in America.

They found it by using mine, Aaron’s, Dads and Mum’s blood in a process called exome sequencing. It is an effective alternative to whole genome sequencing. Exons are short, functionally important sequences of DNA which represent the regions in genes that are translated into protein. This is only in its early stages of been used.It is a very exciting break through for the doctors.  Check out the link for more info.

They said that it shows that mum and dad weren’t related and that it wasn’t even the same gene that they had but a combination that caused it. They also said that I have a 1 in 500,000 chance of passing it on.

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