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在PGT-M应用中评估向缩协议的有效性:综合分析

Evrim Unsal^1,2, Leyla Ozer³, Volkan Baltaci³

¹Department of Molecular Genetics, Mikrogen Genetic Diagnosis Center, 100. Yıl, Reşit Galip Cd. No:18, 06700, Çankaya/Ankara, Turkey. evrimunsal@mikrogenlab.com.

Journal of assisted reproduction and genetics

|October 15, 2025

概括

向序列丰富 (TSE) 协议显著降低了对单一性疾病 (PGT-M) 植入前遗传测试中的等位基因脱落 (ADO) 率. 这种改进提高了测试的灵敏度,并使PGT-M和PGT-A分析得以结合.

科学领域:

生殖遗传学生殖遗传学
分子生物学分子生物学
遗传学是一个遗传学.

背景情况:

在预防遗传性疾病方面,单一性疾病的植入前遗传检测 (PGT-M) 是至关重要的.
同位素脱落 (ADO) 是PGT-M的一个重大挑战,可能导致不准确的结果.
像全基因组放大 (WGA) 这样的传统方法可以引入更高的ADO率.

研究的目的:

评估针对性序列丰富 (TSE) 协议在PGT-M期间降低ADO率方面的有效性.
为了在不同的 PGT-M 方法中比较 ADO 率.

主要方法:

对928例患者病例的回顾性分析.
三种PGT-M方法的比较:PGT-M_Only (基于STR的PCR),WGA+PGT-M和基于WGA的TSE用于PGT-M.
基于每个病例测试的基因数量的ADO率的分析.

主要成果:

基于WGA的PGT-M方法没有有针对性的缩,与PGT-M_Only (0.80%) 和TSE (1.01%) 相比,显示了显著更高的ADO率 (4.76%).
通过TSE协议证明了与传统的PGT-M_Only方法相比的ADO率.
测试复杂性 (基因数) 并没有显著影响ADO率.

结论:

传统的基于WGA的PGT-M方法比直接的PCR方法具有显著更高的ADO率.
该TSE协议有效地减少了ADO,从而增加了PGT-M测试的灵敏度.
TSE可以从单个WGA样本中同时进行PGT-A和PGT-M分析,从而提高效率.

关键词:

一个等位基因掉落出来.在PGT-A中.在PGT-M中.在SNP中,SNP是SNP.在STR中,STR是STR.有针对性的测序丰富.

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