4 ms·
The man who donated the sperm was heterozygous, which would mean about half the sperm would contain the mutant. You can also see this in their figure 2: >"Sequ
by nonbel 9y ago
The man who donated the sperm was heterozygous, which would mean about half the sperm would contain the mutant. You can also see this in their figure 2:
>"Sequencing of 83 individual blastomeres collected from 19 control embryos revealed that 9 (47.4%) were homozygous wild type (MYBPC3WT/WT) and 10 (52.6%) were heterozygous, carrying the wild-type maternal and mutant paternal alleles (MYBPC3WT/ΔGAGT) (Fig. 2a and Supplementary Table 2). This distribution was expected and confirms that the heterozygous patient sperm sample contained equal numbers of wild-type and mutant spermatozoa with similar motility and fertilization efficiency."