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1. (WO2018157861) METHOD FOR IDENTIFYING BALANCED TRANSLOCATION BREAK POINTS AND CARRYING STATE FOR BALANCED TRANSLOCATIONS IN EMBRYOS

Pub. No.:    WO/2018/157861    International Application No.:    PCT/CN2018/077895
Publication Date: Sat Sep 08 01:59:59 CEST 2018 International Filing Date: Sat Mar 03 00:59:59 CET 2018
IPC: C12Q 1/68
Applicants: YIKON GENOMICS (SHANGHAI) CO., LTD
上海亿康医学检验所有限公司
Inventors: BO, Shiping
薄世平
ZHANG, Zhen
张振
REN, Jun
任军
GAO, Yumei
高玉梅
LU, Sijia
陆思嘉
Title: METHOD FOR IDENTIFYING BALANCED TRANSLOCATION BREAK POINTS AND CARRYING STATE FOR BALANCED TRANSLOCATIONS IN EMBRYOS
Abstract:
Provided is a method for identifying balanced translocation break points and a carrying state for balanced translocations in embryos, comprising the following steps: amplifying and sequencing a sample; comparing the sequence which is obtained by means of sequencing with a reference genome and analyzing copy numbers; accurately determining the position of a translocation break point; detecting single nucleotide polymorphisms (SNPs) around the break point and genotyping the SNPs; analyzing an embryonic haplotype, and comprehensively determining a normal chromosome and a translocation chromosome haplotype; determining the embryonic carrying state and, according to the haplotype, selecting an embryo which does not carry a balanced translocation.