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Screening tests for identifying gene products for establishing the existence of a disease (methods such as protein truncation) – X-linked diseases


The test is performed on the patients themselves – even if there is only one. These tests involve examining the soundness of the gene products, i.e. the proteins, without examining the sequence of bases, so that the mutation itself is not demonstrated. The result can establish the existence of the disease being investigated.

This is a short, simple and more rapid test than establishing the entire gene sequence. However, it cannot always serve as a prenatal diagnostic tool. It is advisable to test for the exact defect afterwards.

If the defect is found using this method, it is possible:
  1. To allow a couple that has had an affected child to undergo prenatal diagnosis to determine with a high degree of reliability whether subsequent fetuses (especially male ones) are healthy or affected.

  2. To establish which females in the family carry the mutation and who are therefore considered to be carriers but not affected. Women found to be carriers can undergo prenatal tests in every pregnancy in order to establish whether or not the fetus is affected.

If a patient cannot be examined: It is impractical (but possible) to check family members (or the fetus) directly using the same methods, which are time-consuming and complex.
 
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