Preimplantation Genetic Testing Analysis for a Chinese Family with Hereditary Spherocytosis Caused by a Novel Splicing Variant of SPTB

In this study, we recruited a patient with Hereditary spherocytosis (HS) detected to have a novel heterozygous variant in the SPTB in the proband. Sanger sequencing of variant alleles and haplotype linkage analysis were performed simultaneously. Five embryos were identified with one heterozygous and four not carrying the SPTB variant. Single-cell amplification and whole genome sequencing showed that three embryos had varying degrees of trisomy mosaicism. whole genome amplication DNA of 5 embryos and parents' gDNA were genotyped on Illumina ASA SNP array. contributor: Fudan University