Germline mutations of human short tandem repeat (STR) loci are expansions or contractions of repeat arrays which are not well understood in terms of the mechanism(s) underlying such mutations. Although polymerase slippage is generally accepted as a mechanism capable to explain most features of such mutations, it is still possible that unequal crossing over plays some role in those events, as most studies in humans could not exclude unequal crossing over (UCO). Crossing over can be studied by analyzing haplotypes using flanking markers. To check for UCO in mutations, we have analyzed 150 paternity cases for which more than the usual trio (mother, child, and father) were available for testing by analyzing 16 STR loci. In a total of 4900 parent-child allele transfers four mutations were observed at different loci (D8S1179, D18S51, D21S11, and SE33/ACTBP2). To identify the mutated allele and to check for UCO, we typed at least four informative loci flanking the mutated locus and used the pedigree data to establish haplotypes. By doing so we were able to exclude UCO in each case. Moreover, we were able to identify the mutations as one-repeat contractions/expansions. Our data thus support slippage as the mechanism of germline mutations in STRs.

In recent years, a social trend toward delaying childbearing has been observed in women of reproductive age. A novel technomedical innovation was commercialized for non-medical reasons to healthy, ostensibly fertile women, who wished to postpone motherhood for various reasons such as educational or career demands, or because they had not yet found a partner. As a consequence, these women may be affected by age-related infertility when they decide to conceive, and fertility preservation techniques can be obtained through the so-called social egg freezing. This paper examines, from an ethical point of view, the impact of social egg freezing under some aspects that can involve policy making and resources allocation in public health. Due to the increasing demand for this procedure, some debated issues regard if it is reasonable to include social egg freezing in Public Healthcare System and consequently how to manage the storage of cryopreserved oocytes also from individual donors, how to support these egg banks and how to face, in the future, with the possibility that egg freezing will play a role in enabling childbearing for gays, lesbians, and unmarried persons. Social freezing may be advertised to harmonise gender differences, but we wonder if it is the proper solution to the problem or if it could also create further challenges. An ethical argumentation on these topics should address some questions that will be discussed.Significance for public healthOne of the purposes of medicine in health policies is the recognition of the different health needs of men and women because of their differences, that we can define gender equity, which should be guaranteed. Social egg freezing means to preserve and store a woman’s oocytes for non-medical purposes. This paper discusses how social freezing may be advertised to harmonise these incompatibilities and, if oocyte cryopreservation is an accepted procedure to counter infertility and if fertility treatment is covered by public healthcare, the consequence may be that it may also be covered by public national healthcare system or we have to admit that there is a distinction between assisted reproductive technologies for medical reasons and assisted reproductive technologies with oocytes previously stored for non-medical reasons.

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