鉴定和中断家族性隐匿易位的遗传：一例报告。

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. CONCLUSION: Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.

背景：通过对流产组织或畸形婴儿的遗传分析可以识别隐匿性易位，但很难推断易位的亲本来源。在缺乏这些信息的情况下，在进行旨在阻断易位家族传播的胚胎植入前遗传学检测时，区分易位与正常胚胎并不容易。

方法：在这里，我们提出了一种新的方法来检测隐匿性易位并阻断其家族传播。全基因组低覆盖度配对测序（WGLMPS）揭示了染色体断点序列，然后使用胚胎植入前遗传单体型分析（PGH）来剔除携带隐匿性易位的胚胎。

结果：在所有四个家庭中都发现了隐匿性易位，并成功阻断了一个家庭的家族传播。

结论：全基因组低覆盖度配对测序结合胚胎植入前遗传单体型分析方法，有力且实用地识别隐匿性易位并阻断家族传播。