GENETIC EXAMINATION IN SINGLE GENE DISEASES

Single gene diseases are more difficult to identify at the embryo stage than chromosomal diseases. For PGD, blood is taken from the couples and the DNA change that causes the disease, called mutation, must be determined beforehand.
In order for single gene diseases to be studied at the embryo stage, a preparation stage called the set-up stage, which usually lasts 1-2 months, is required. Single gene diseases nowadays; With methods such as DNA sequence analysis and fragment analysis, Mediterranean anemia (thalassemia), cystic fibrosis, spinal muscular atrophy (SMA), hemophilia, duchenne muscular dystrophy (DMD) etc. Many genetic diseases can be identified at the embryo level.

In order to perform the set-up process, the gene region related to the disease determined in the family must be examined by DNA testing and the change (mutation) in this genetic region must be detected. After confirming the mutations, determining and testing the informative markers specific to the disease to be used in the PGD process on embryos, the set-up phase is completed. The use of family-specific informative markers provides the control mechanism. Embryos determined to be healthy after the evaluation are transferred to the expectant mother.