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Genetics

 

Genetics is the study of heredity, the passing of traits from parents to their children. Physical traits such as eye colour are inherited, as are biochemical and physiologic traits, including the tendency to develop certain diseases.

 

Gitelman Syndrome is an inherited disorder. It is an autosomal recessive condition which is caused by a change in the gene which is connected to moving salt around the kidneys . Every person contains 2 copies of this gene (the SLC12A3 gene).

 

In unaffected people, both copies work perfectly. In carriers of the condition one copy works normally and one doesn't. And in those affected by Gitelman's, neither copy works normally.

 

Because Gitelman Syndrome is a genetic condition, it can be passed from generation to generation, purely because it's contained in the SLC12A3 gene which everyone has.

 

Depending on the combination of parents of carriers, affected and unaffected genes, will dictate the chance of producing an unaffected, carrier, or affected child.

 

If both parents are carriers of the gene then, as can be seen from the diagram above, any child they produce could be affected, a carrier, or unaffected.

 

There is a 25% chance of either an affected or unaffected child and a 50% chance of a child being a carrier.

If one parent is unaffected and one is a carrier of the gene then, as can be seen from the diagram above, any child they produce could be either unaffected or a carrier.

 

There is a 50% chance of the child being either unaffected or a carrier.

If one parent is a carrier of the gene and one is affected with the condition then, as can be seen from the diagram above, any child they produce could be either affected or a carrier.

 

There is a 50% chance of the child being either affected or a carrier.

If one parent is unaffected and one has the condition then, as can be seen from the diagram above, any child they produce will be a carrier.

 

It is a 100% guarantee of their children being a carrier.

If both parents have the condition then, as can be seen from the diagram above, any child they produce will also have the condition.

 

It is a 100% guarantee of their children being affected by the condition.