Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

ABSTRACT:

Background

The precise etiology of approximately 50% of patients with recurrent spontaneous abortion (RSA) is unclear, known as unexplained recurrent spontaneous abortion (URSA). This study identified the genetic polymorphisms in patients with URSA.

Methods

Genomic DNA was extracted from 30 couples with URSA and 9 couples with normal reproductive history for whole exome sequencing. Variations in annotation, filtering, and prediction of harmfulness and pathogenicity were examined. Furthermore, predictions of the effects of changes in protein structure, Sanger validation, and functional enrichment analyses were performed. The missense mutated genes with significant changes in protein function, and genes with mutations of premature stop, splice site, frameshift, and in-frame in

SUBMITTER: Mou JT 

PROVIDER: S-EPMC9201170 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature