一种新型方法可在单细胞水平检测 3 型分裂手/足畸形中的微重复：以 SHFM 作为案例研究。
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.
机构信息
The First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
NHC Key Laboratory of Birth Defects Prevention, Zhengzhou, China.
出版信息
Orphanet J Rare Dis. 2024 Oct 31;19(1):406. doi: 10.1186/s13023-024-03386-5.
BACKGROUND
Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women.
RESULTS
In this research, we utilized a low cell count and whole-genome amplification products to employ single nucleotide polymorphism arrays, next-generation sequencing, and third-generation sequencing methods to detect copy number variants of microduplications in a SHFM3 case with limited DNA. Additionally, Karyomapping and combined linkage analysis were conducted to validate the results.
CONCLUSIONS
This study establishes a new strategy for identifying microduplications or microdeletions at the single-cell level in clinical preimplantation genetic testing, enhancing the efficiency and accuracy of diagnosing microduplication or microdeletion diseases during IVF-PGT and prenatal diagnosis.
背景
分裂手/足畸形（SHFM）是一种以中央指（趾）缺失或缩短为特征的先天性肢体缺陷。已有多个基因座与 SHFM 相关。在临床实践中，识别单细胞水平的微重复是具有挑战性的，传统的检测方法可能导致胚胎和孕妇的误诊。
结果
在这项研究中，我们利用低细胞计数和全基因组扩增产物，采用单核苷酸多态性微阵列、下一代测序和第三代测序方法，检测了一个 SHFM3 病例中微重复的拷贝数变异，该病例的 DNA 有限。此外，还进行了核型映射和联合连锁分析来验证结果。
结论
本研究为临床胚胎植入前遗传学检测中单细胞水平微重复或微缺失的鉴定建立了一种新策略，提高了 IVF-PGT 和产前诊断中微重复或微缺失疾病诊断的效率和准确性。
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