Human karyomap 12v1

As previously described, genome-wide SNP genotypes were generated by SNP microarray (Illumina Human Karyomap-12V1.0).25 (link) The haplotypes were established with informative SNPs, including the two break point regions, the whole inversion chromosomes and the corresponding homologous chromosomes in the couple, reference and embryos. Either an unbalanced embryo or a carrier’s family member was used as a reference to phasing haplotype. The selection criteria for informative SNPs were that they should be homozygous in the spouse and heterozygous in the patient. In addition, these SNPs in the patient’s parents or other family members should be homozygous when they were used as references to phase haplotype. The haplotypes of the whole inversion chromosome and the homologous chromosome could indicate recombination around the break points.

We used the Illumina Human Karyomap‐12 V1.0 (Handyside et al., 2010 (link)) SNP microarray to perform genome‐wide PGH analysis of the embryos of two families. The flanking and breakpoint regions identified using WGLMPS were assessed by establishing their haplotypes. This information was used to identify balanced and normal embryos. Molecular karyotyping and haplotype linkage analyses were performed using Bluefuse‐multi software (Illumina Inc., San Diego, CA, USA 17).