Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.

ABSTRACT:

Purpose

Approximately 1% of individuals who carry a balanced reciprocal translocation (BRT) are subfertile. Current karyotyping does not have the resolution to determine whether the breakpoints of the involved chromosomes perturb genes important for fertility. The aim of this study was to apply single-molecule optical mapping (SMOM) to patients presenting for IVF (in vitro fertilization) to ascertain whether the BRT disrupted any genes associated with normal fertility.

Methods

Nine subfertile patients with different BRTs were recruited for the study. Methyltransferase enzyme DLE1 was used to fluorescently label their genomic DNA samples at the recognition motif CTTAAG. The SMOM was performed on the Bionano platform, and long molecules aligned against the reference genome hg1

SUBMITTER: Wang H 

PROVIDER: S-EPMC7125258 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature