Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.

ABSTRACT:

Purpose

To report genetic characteristics and associated risk of chromosomal breaks due to chromosomal rearrangements in large samples.

Methods

MicroSeq, a technique that combines chromosome microdissection and next-generation sequencing, was used to identify chromosomal breakpoints. Long-range PCR and Sanger sequencing were used to precisely characterize 100 breakpoints in 50 ABCR carriers.

Results

In addition to the recurrent regions of balanced rearrangement breaks in 8q24.13, 11q11.23, and 22q11.21 that had been documented, we have discovered a 10-Mb region of 12q24.13-q24.3 that could potentially be a sparse region of balanced rearrangement breaks. We found that 898 breakpoints caused gene disruption and a total of 188 breakpoints interrupted genes recorded in OM

SUBMITTER: Xiao Y 

PROVIDER: S-EPMC10789712 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature