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扩大了PGT-M策略对小型致病性CNV的应用

Xiao Hu¹, Weili Wang^1,2, Keli Luo¹

¹Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410008, China.

Journal of assisted reproduction and genetics

|January 24, 2024

概括

现在可以使用扩展的单种类型策略对小副本数变异 (CNV) 进行植入前遗传测试. 这种方法克服了当前PGT-A的局限性,使得对具有病原性CNVs的家族进行遗传查.

科学领域:

生殖医学生殖医学
临床遗传学临床遗传学
基因组学就是基因组学.

背景情况:

抗积体病 (PGT-A) 的植入前遗传测试在检测小副本数变异 (CNVs) 下1 Mb.有局限性.
小型致病性CNV对传统的PGT-A构成挑战,需要采用替代诊断方法.

研究的目的:

适应单一性疾病的植入前遗传检测 (PGT-M) 策略,以检测小致病性CNVs.
评估基于哈普洛型的PGT-M对携带小CNV的夫妇的疗效.

主要方法:

使用向测序和全基因组数组进行了哈普洛型分析,以识别未受影响的胚胎.
在2019年11月至2023年4月期间,对20个具有小致病性CNV (微删除和微重复) 的家族进行了PGT.
产前诊断是通过怀孕18-20周的羊水分析进行的.

主要成果:

PGT成功应用于20个在各种染色体上具有小CNV (57-2120kb) 的家族.
在25个PGT周期中实现了98.9% (88/89个胚胎) 的高诊断产量.
临床怀孕率为78.9% (15/19次转移),产前诊断证实健康新生儿中没有相关的致病性CNV.

结论:

基于扩展单元型的PGT-M有效地解决了PGT-A对小型病原性CNV的分辨率限制.
开发的PGT-M策略为寻求在植入前遗传测试期间查小病原性CNV的夫妇提供了可行的解决方案.

关键词:

副本数量变体 (CNVs) 的变体微切除是一种微切除.微复制是微复制的方法.植入前遗传检测 (PGT) 是一种基因检测.单核酸多态 (单核酸多态,简称SNP)

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...