Research Paper Volume 13, Issue 22 pp 24786—24794
Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping
Figure 4. Genotyping results of STR D13S218, STR D13S894, and STR D13S1253 in this family. STR D13S218, D13S894 and D13S1253 showed that the fetus was a heterozygous carrier with one FREM2 gene mutation (c.2689C>T, p.Gln897Ter) inherited from the father, which is consistent with the PGD result. (A) Genotyping for STR D13S218 in the man’s family and used in prenatal diagnosis indicates that the chromosome carrying pathogenic mutation originated from his father. The fetus inherited pathogenic chromosome from his father. (B) Genotyping for STR D13S894 in the woman’s family and used in prenatal diagnosis indicates that the chromosome carrying pathogenic mutation originated from her mother. The fetus inherited the normal chromosome from his mother. (C) Genotyping for STR D13S1253 in the man’s family and used in prenatal diagnosis indicates that the chromosome carrying pathogenic mutation originated from his father. The fetus inherited the pathogenic chromosome from his father.