#Question id: 16132

You are running a human assisted reproduction clinic and providing state-of-the-art genetic diagnostic services. A married couple who already had a child with cystic fibrosis approach you because they wish to have another child, but only if they can be assured that the child will not have cystic fibrosis. You genotype the woman and discover that she is a heterozygote for Del508, the most common mutation causing cystic fibrosis. You suggest that the couple consider first polar body testing, in which several unfertilized oocytes (each with its first polar body) are retrieved from the woman, the first polar bodies are removed, and PCR tests are conducted on DNA from each of the first polar bodies. The couple agrees, and you obtain the following results:

 

the observation that the polar bodies for oocytes #1 and #5 test positive for both Del508 and the wild type sequence, because