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转位特异的聚合酶连锁反应在复发转位载体的植入前遗传测试中
Gen Furukawa1,2, Rie Kawamura1, Hidehito Inagaki1
1Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
Journal of human genetics
|February 26, 2025
概括
区分平衡的互换转位与正常的双体化对于结构重组 (PGT-SR) 的植入前遗传测试至关重要. 复制数变异分析和使用多重位移放大 (MDA) 的转位特异PCR的组合有效地区分了这些条件.
科学领域:
- 生殖遗传学 生殖遗传学
- 基因组技术是基因组技术.
- 人类遗传学 人类遗传学
背景情况:
- 均衡的相互转移可以导致生殖问题和疾病表型.
- 区分转位与正常双倍体是当前的植入前遗传检测 (PGT) 方法,如下一代测序 (NGS) 和微阵列的挑战.
- 经常出现的宪法转位,如t(8;22) 和t(11;22),几乎具有相同的断点,使准确的诊断变得复杂.
研究的目的:
- 评估结合复制数变化 (CNV) 分析与转位特异PCR分析的有效性,以区分平衡的互换转位与PGT中的正常双体化.
- 将全基因组放大 (WGA) 方法,循环式放大 (LBA) 和多重位移放大 (MDA) 进行比较,以了解它们在PGT-SR中的实用性.
主要方法:
- 分析了从经过PGT转移的t(8;22) 和t(11;22) 载体中丢弃的胚胎.
- 皮活检样本使用LBA或MDA进行了全基因组放大 (WGA).
- 对WGA产品进行了基于下一代测序 (NGS) 的CNV分析和转位特异PCR.
主要成果:
- CNV分析显示了LBA和MDA WGA方法之间的一致性.
- 转位特异PCR在MDA WGA样本中成功检测出衍生染色体,但在LBA样本中没有.
- 该研究使用CNV分析成功地将平衡的互换转位与正常的双体化区分开来.
结论:
- 使用MDA增强WGA产品的CNV分析和转位特异PCR的综合方法对结构重组 (PGT-SR) 进行植入前遗传测试是有效的.
- 这种方法可以准确地区分平衡的互换转位与正常的双倍体,从而提高PGT的诊断能力.
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