A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).

ABSTRACT:

Purpose

The purpose is to develop a preimplantation genetic testing (PGT) method for α-thalassemia in one reaction, without requiring a proband, using targeted long-range polymerase chain reaction (LR-PCR) followed by long-read sequencing (LRS).

Methods

We developed a targeted LRS-based PGT method for α-thalassemia (tlrPGT-α-thal). This novel approach detects both HBA-associated variants and informative linked fragments in peripheral regions by targeted LR-PCR in one reaction.

Results

A total of 115 samples, including 10 couples and 95 embryos, were subjected to this method. Available heterozygous SNPs were used to distinguish four parental haplotypes. Haplotype linkage analysis was successfully performed in all families, and the results of embryos were all consistent

SUBMITTER: Shi Q 

PROVIDER: S-EPMC12423001 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature