ndividuals who inherit Alport syndrome experience progressive loss of kidney function, which ultimately leads to renal disease.
Mutations in the COL4A gene, which is located on the X chromosome, cause Alport syndrome, and the condition is recessive.
If Maria has inherited a faulty (mutated) copy from her mother and a normal copy from her father, is it possible for her to suffer from kidney complications?
No - since the condition is X-linked recessive it only affects men
No - the condition is X-linked recessive, so the only way Maria would show symptoms is if she inherited TWO faulty copies
No - the process of X inactivation ensures that BOTH copies she inherited will be expressed in all cells, so the normal one will mask the faulty one
Yes - the process of X inactivation could have randomly inactivated the normal copy she inherited from her father in many of her kidney cells
Yes - the process of X inactivation could have randomly inactivated the faulty copy she inherited from her mother in many of her kidney cells