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.
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。