Figure 5 | Scientific Reports

Figure 5

From: Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction

Figure 5The alternative text for this image may have been generated using AI.

Trio data of 114 families with CF were analysed to demonstrate the inheritance of the genetic trait. In 38 families both parents were carriers of the Phe508del-pathogenic variant leading to at least one child with CF (index patient). Transmission of the mutation to the index patients and to their siblings was analysed (observed) and compared with the Mendelian transmission rate (expected). The distribution of the genotypes was found to correspond to the Hardy–Weinberg equilibrium (X2 statistic: 1.204, p = 0.942).

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