Family verification by sanger sequencing
Genetic modification of the mutations was performed on
the fetus, pregnant women and
their husbands. According to the exome of the mutation site, the primers
needed for sequencing the synthetic DNA fragments were designed, and the
DNA of the fetus, pregnant women and their husbands were PCRâamplified.
Method of sequencing was performed by Sanger sequencing and the
sequencing results were compared with the results of whole exome
sequencing.