Clinical Application Study Of High-throughput Genetic Technology In The Field Of Reproductive Genetics

High-throughput genetic technology(HGT)mainly includes array comparative genomic hybridization(aCGH),single nucleotide polymorphism-based array(SNP array)and next generation sequencing(NGS).HGT is characterized by high speed,high resolution,high throughput and automation,and it has rapidly entered clinical application from scientific research laboratory and played a revolutionary role on traditional medical cytogenetics and molecular genetics.Spontaneous abortion(SA)and premature ovarian insufficiency(POI)are common clinical problems in reproductive medicine.However,the etiology of SA and POI is often unclear.A new robust technology is urgently required to help identify etiological diagnosis,which can result in precise individualized treatment.Genetic factors have been considered to be played an important role on SA and POI.In this study,HGT was used to study the genetic causes of SA and POI:(1)A total of 1753 SA tissues were analyzed by aCGH and NGS,and the detection rate of chromosomal abnormalities was 54.25%(951/1753);Combination with fluorescence in situ hybridization(FISH),aCGH and NGS could help to identify submicroscopic chromosomal recombination,which is important for the couples with recurrent spontaneous abortion but always ignored by traditional cytogenetic testing.(2)A total of 73 patients with idiopathic POI were screened for known disease-causing genes by NGS technology,and the detection rate of known or suspected disease-causing mutations was 16.44%(12/73),and the etiological diagnosis of these patients were made;The detection rate was 28.77%(21/73),if geneticassociation genes of POI were included;Several novel disease-causing mutations of known disease-causing genes of POI were found,which enriched the mutation spectrum of POI.