Abstract: Provided is a method for identifying balanced translocation breakpoints 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 breakpoint; detecting single nucleotide polymorphisms (SNPs) around the breakpoint 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.
Type:
Grant
Filed:
March 2, 2018
Date of Patent:
December 5, 2023
Assignee:
YIKON GENOMICS (SHANGHAI) CO., LTD
Inventors:
Shiping Bo, Zhen Zhang, Jun Ren, Yumei Gao, Sijia Lu
Abstract: Provided is a method for identifying balanced translocation breakpoints 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 breakpoint; detecting single nucleotide polymorphisms (SNPs) around the breakpoint 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.
Type:
Application
Filed:
March 2, 2018
Publication date:
January 9, 2020
Applicant:
YIKON GENOMICS (SHANGHAI) CO., LTD
Inventors:
Shiping BO, Zhen ZHANG, Jun REN, Yumei GAO, Sijia LU