PDF(Pubmed)
Abstract：
BACKGROUND: Cryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre-implantation genetic testing, that seeks to block familial transmission of translocations.
METHODS: Here, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole-genome, low-coverage mate-pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations.
RESULTS: Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family.
CONCLUSIONS: Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.
METHODS: Here, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole-genome, low-coverage mate-pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations.
RESULTS: Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family.
CONCLUSIONS: Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.
摘要：
背景：可以通过对流产组织或畸形婴儿的遗传分析来识别隐匿性易位，但是很难推断易位的父母起源。如果没有这样的信息，在胚胎植入前基因检测中不容易区分易位和正常胚胎，试图阻止易位的家族传播。
方法：这里，我们提出了一种检测隐匿性易位并阻断其家族性传播的新方法。全基因组,低覆盖率配对测序（WGLMPS）揭示染色体断点序列，然后使用植入前遗传单倍型（PGH）丢弃具有隐匿性易位的胚胎。
结果：在所有四个家庭中都发现了隐匿性易位，在一个家庭中成功阻断了家族传播。
结论：全基因组，低覆盖率配对测序与植入前遗传单倍型方法相结合，可以有效地识别隐匿性易位并阻断家族性传播。
方法：这里，我们提出了一种检测隐匿性易位并阻断其家族性传播的新方法。全基因组,低覆盖率配对测序（WGLMPS）揭示染色体断点序列，然后使用植入前遗传单倍型（PGH）丢弃具有隐匿性易位的胚胎。
结果：在所有四个家庭中都发现了隐匿性易位，在一个家庭中成功阻断了家族传播。
结论：全基因组，低覆盖率配对测序与植入前遗传单倍型方法相结合，可以有效地识别隐匿性易位并阻断家族性传播。
