Evidence map›Paper›PMID 37993578›Full record

ArticleJournal of assisted reproduction and genetics2024

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

Yanqin Xiao, Dehua Cheng, Keli Luo, Mengge Li, Yueqiu Tan, Ge Lin, Liang Hu

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Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Yanqin XiaoInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.
Dehua ChengClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China.
Keli LuoInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.
Mengge LiNational Engineering and Research Center of Human Stem Cells, Changsha, 410023, Hunan, China.
Yueqiu TanInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.
Ge LinInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.
Liang HuInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China. lianghu@csu.edu.cn.ORCID http://orcid.org/0000-0001-6984-834X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

methodsMicroSeq, 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.

resultsIn 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 OMIM. The percentage of breakpoints that disrupted autosomal dominant genes recorded in OMIM was 25.53% (48/188). Fifty-four of the precisely characterized breakpoints had 1-8-bp microhomologous sequences.

conclusionOur findings provide a reference for the evaluation of the pathogenicity of mutations in related genes that cause protein truncation in clinical practice. According to the characteristics of breakpoints, non-homologous end joining and microhomology-mediated break-induced replication may be the main mechanism for ABCRs formation.

Indexed as

Chromosome AberrationsTranslocation, GeneticChromosome BreakpointsGene RearrangementHumansMutationBreakpointChromosome rearrangementGenetic riskMicroSeq

Identifiers

PMID37993578
PMCPMC10789712

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