An unusual observation of tetragametic chimerism: forensic aspects

Verdiani, Simonetta; Bonsignore, Alessandro; Casarino, L.; Ferrari, G.; Zia, S; Stefano, Francesco De

doi:10.1007/s00414-009-0332-0

Cited by 13 publications

(4 citation statements)

References 13 publications

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“…Although blood transfusion is not thought to affect DNA profiling [2], this medical information allowed to exclude chimerism associated with medical intervention (i.e., artificial chimerism) see, e.g., [3][4][5][6] as being the explanation of the observed pattern. Natural chimerisms resulting from the fusion of zygotes [7], from exchanges of blood between fetuses in utero, e.g., [8][9][10], or from double parental contribution, e.g., [11][12][13][14] as well as mosaicism are compatible with our data. Mosaics originate from somatic mutation and have generally only one STR locus altered [15,16], but cancer may considerably increase the mutability of genetic markers, e.g., [17][18][19][20][21].…”

Section: Discussionsupporting

confidence: 87%

One person with two DNA profiles: a(nother) case of mosaicism or chimerism

Castella¹,

Lesta²,

Mangin³

2009

Int J Legal Med

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Nuclear DNA markers, such as short tandem repeats (STR), are widely used for crime investigation and paternity testing. STR were used to determine whether a piece of tissue regurgitated by a dog was part of the penis of a dead, emasculated, man. Unexpectedly, when analyzing the recovered material and a blood sample from the deceased, five out of the 18 loci differed. According to the results, one could have concluded that these samples originated from two different persons. However, taking into account contextual information and data from complementary genetic analyses, the most likely hypothesis was that the deceased was a genetic mosaic or a chimera. Within a forensic genetic context, such genetic peculiarities may prevent associating the perpetrator of an offense with a stain left at a crime scene or lead to false paternity exclusions. Fast recognition of mosaics or chimeras, adapted sampling scheme, as well as careful interpretation of the data should allow avoiding such pitfalls.

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Section: Discussionsupporting

confidence: 87%

One person with two DNA profiles: a(nother) case of mosaicism or chimerism

Castella¹,

Lesta²,

Mangin³

2009

Int J Legal Med

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“…The fusion of two different and independently fertilized zygotes leads to the tetragametic chimera. This mechanism is the most frequent and, to date, it has been demonstrated in 9 patients reported [2,[6][7][8][9][10][11][12][13]. In this case, 4 different alleles (2 maternal and 2 paternal) can be observed at some loci in the patient.…”

Section: Tetragametic Chimerismmentioning

confidence: 97%

Mechanism of origin in two cases of chimerism

Minelli¹,

Guala²,

Groppo³

et al. 2011

OJPed

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Chimerism is defined as the presence in a subject of more than one stable and genetically distinct cell line; cases reported so far include both patients with ambiguous genitalia and healthy subjects. The biological mechanisms, which may give origin to chimeras, are complex, and can be understood by analyzing DNA samples of the patients and their parents using molecular techniques. The objective of this study is to identify the mechanism of origin for the 2 cases we report. The first patient is a phenotipically normal girl with normal (external and internal) genitalia; the second patient had ambiguous genitalia and underwent surgery. DNA was purified from blood samples and, limited to Patient 1, from a sample of biliary cyst. Short tandem repeat polymorphisms were analyzed in order to identify the relative parental contribution to the patients. Molecular analyses carried out on the first patient are not fully informative because of two possible explanations (<i>i.e. </i>parthenogenetic and andrognetic chimera), while in the second case the presence of four alleles at some markers allowed us to identify a tetragametic chimera originnated from the fusion of two distinct embryos. Studies carried on one single tissue may not always be conclusive as they do not allow the precise identification of the mechanism of origin. In these cases, studies on more tissues are strongly suggested

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“…This process underlies the phenomenon of a “vanishing twin” when one twin embryo merges with the other [ 10 ]. Then, the cells of the vanished twin dissipate within the tissues of the persisting twin and may manifest later as simultaneous presence of different blood types [ 11 ], Y-chromosome bearing cells within a female organism [ 12 ], or the germline within the other twin’s organism ( Figure 1B ) [ 13 ].…”

Section: Life As Defined By Fusionmentioning

confidence: 99%

The beginning of becoming a human

Loseva,

Gladyshev

2024

Aging

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According to birth certificates, the life of a child begins once their body comes out of the mother’s womb. But when does their organismal life begin? Science holds a palette of answers—depending on how one defines a human life. In 1984, a commission on the regulatory framework for human embryo experimentation opted not to answer this question, instead setting a boundary, 14 days post-fertilization, beyond which any experiments were forbidden. Recently, as the reproductive technologies developed and the demand for experimentation grew stronger, this boundary may be set aside leaving the ultimate decision to local oversight committees. While science has not come closer to setting a zero point for human life, there has been significant progress in our understanding of early mammalian embryogenesis. It has become clear that the 14-day stage does in fact possess features, which make it a foundational time point for a developing human. Importantly, this stage defines the separation of soma from the germline and marks the boundary between rejuvenation and aging. We explore how different levels of life organization emerge during human development and suggest a new meaning for the 14-day stage in organismal life that is grounded in recent mechanistic advances and insights from aging studies.

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An unusual observation of tetragametic chimerism: forensic aspects

Cited by 13 publications

References 13 publications

One person with two DNA profiles: a(nother) case of mosaicism or chimerism

One person with two DNA profiles: a(nother) case of mosaicism or chimerism

Mechanism of origin in two cases of chimerism

The beginning of becoming a human

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