Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.

ABSTRACT: BACKGROUND:Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay. METHODS:One couple at risk of transmitting Usher Syndrome to their offspring was recruited to this study. Customized capture probe targeted at USH2A gene and 350 kb flanking region were designed for PGT-M. Eleven blastocysts were biopsied and amplified by using multiple displacement amplification (MDA) and capture sequencing. A hidden Markov model (HMM) assisted haplotype analysis was performed to deduce embryo's genotype by using single nucleotide polymorphisms (SNPs) identified in each sample. The embryo without paternal rare variant was implanted and validate

SUBMITTER: Luo H 

PROVIDER: S-EPMC6836415 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature