Establishment of Preimplantation Genetic Diagnostic Technique for Hereditary Hearing Impairment

Objective: The aim of this study is to establish a method by single nucleotide polymorphism detection from a single cell using the whole genomic amplification and restriction fragment length polymorphism-PCR (RFLPPCR). Methods: Genomic DNA was first prepared and wholly amplified from 80 biopsied blastomeres using the Sure Plex DNA Amplification System. Then, PCR was carried out on a single blastomere for the most frequent mutations, 235delC in GJB2 gene and 1555A>G in 12SrRNA gene. Results: For GJB2, 62 samples were successfully diagnosed, and all samples were carried out for 12S rRNA. , The PCR products were digested with special restriction enzymes to further determine genetic mutation. Finally, the CYP2B6 genotype was determined by the RFLP-PCR. Conclusion: This study provides the first attempt of RFLP-PCR technology applications in determining genetic deafness, and shows the reliability of the technology in IVF clinical settings.