Parentage Testing and Genetic Identification
OVERVIEW
Services in the field of genetic parentage testing and identification was introduced in IPATIMUP in 1996. Re-organization of the services led to the creation of the unit (UPSI-GenID) in 2003. On the other hand, the team has had experience in pure and applied research in this area since 1982. Transfer of technology and know-how from the scientific activity has contributed for the establishment of new tests in the genetic identification field. The unit also provides assistance to post-graduate studies, namely the MSc in Forensic Genetics.
Parentage investigations, identity queries and genetic characterizations in humans as in dogs (more recently) are a brief summary of the kind of tests UPSI has available. The analyses are done by application of specific genetic markers: autosomal, X-chromosome and Y-chromosome markers, and mitochondrial DNA sequences.
We provide expertise to MPs and courts (from the Continent and Islands), to private or public medical entities in order to serve the whole country and, in the canine genotyping arena, to Portuguese dog breeders’ associations.
USEFUL INFORMATION
Exams
- Paternity/Maternity Tests
- Zygosity Tests
- Other Parentage Tests
- Identity investigations
- Individual genetic profile
- Characterization of lineage markers (maternal/paternal)
- Genetic characterisation of dogs (genetic profiles/kinship tests)
Contacts
UPS Secretariat, Dra. Cíntia Alves, Doutora Leonor Gusmão or Prof. Doutor António Amorim.
Tel: +351 22 5570700
Fax: +351 22 5570799
e-mail: genid@ipatimup.pt
Paternity/Maternity Tests
Collection of samples
- Blood samples (on appropriate tube or paper) or buccal swabs may be collected.
- It is not necessary to be done during fasting.
- The collection of samples may be carried out by us, or they can be sent to us by the the exam requester, who will be responsible for sample identification and custody. For samples collected under our responsibility, a valid identification document with photograph of all persons involved is necessary.
Costs
- According to the Portuguese Código de Custas Judiciais, DR, II série, 15-7-1997, the cost of each exam (a trio - putative father, mother and son - or a duo – putative father and son) is 1468.50€.
- For each additional individual (more than one son or more than one putative father), the cost is incremented by 489.50€.
- A 10% reduction of costs will be done if the medical doctor requesting the exam is in charge of collecting and sending the samples according to our instructions. The final report will only be sent after confirmation of payment.
- The IPATIMUP has a protocol with the Northern Portuguese Regional Health Administration (ARS). A discount of 199.52€ is made for each special medical request (credencial or P1) from a Health Centre.
- Payment can be done by cheque, cash, bank transfer or cash card (MB).
Analysis Efficiency / Informativeness
- From the results obtained, a conclusion is formulated and communicated in terms of paternity probability, by using, fundamentally, the Essen-Møller methodology. The analyses efficiency is measured by the discrimination capacity between the hypothesis of paternity and non-paternity; in other words, by the mean values of paternity probabilities among true and false fathers. In classical terms, the analyses efficiency has been measured only by exclusion efficiency, in other words, the probability of, taking a mother-child pair at random and indicating, also randomly, a given individual as the putative father, the occurrence of at least one situation (“exclusion”) which can only be compatible with paternity, invoking a relatively rare phenomenon. With the group of systems studied, this value is 99.9999991%.
Note: These values are only guaranteed in cases of complete trios (mother, son and putative father); situations where one of the parents is not available for sample collection, these can only be obtained after a deeper investigation, naturally more delayed and costly.
Schedules
- The report will be emitted before the term of 2 working weeks after reception of samples in good conditions, with the exception of the terms expressed in “Costs”.
Analysis request
- The parentage investigation may be solicited by the Court, the state’s attorney or by any medical doctor, through an appropriate request.
Methods employed
- Genetic markers used: STRs (short tandem repeat polymorphisms), according to the rules defined by the Spanish and Portuguese Group of the International Society for Forensic Genetics (GEP-ISFG). The DNA polymorphisms are determined by fragment size determination with automatic systems. The markers used are in Table “List of autosomal STRs” (see below).
Zygosity Tests
- Investigation of zygosity on 2 or more twins. It allows distinction of monozygotic twins (“identical”) from dizygotic (“fraternal”) through the analysis of a battery of genetic markers (STRs).
- From the results obtained, a conclusion is formulated and communicated in terms of probability of monozygosity, by using, essentially, the Essen-Møller methodology.
Other Parentage Tests
- Various kinds of parentage testing, namely in paternity cases where the putative father is unavailable but there is access to his closely related family members (parents, brothers/sisters, etc.), sibling tests, etc. Routinely, the genetic markers of choice are the autosomal STRs and, only if necessary, other markers will be used (mtDNA, Y-STRs, Y-SNPs, X-STRs, Indels).
- From the results obtained, a conclusion is formulated and communicated in terms of probability of parentage, by using, essentially, the Essen-Møller methodology.
Identity investigations
- Investigation of whether a certain sample (traces/stains of blood or other traces of biological tissue/fluid) can belong or not to a certain individual, through the analysis of genetic markers (STRs and/or mtDNA and/or Y-STRs and/or X-STRs and/or Indels).
- From the results obtained, a conclusion is formulated and communicated in terms of probability of identity, by using, essentially, the Essen-Møller methodology.
Individual genetic profile
- Individual genetic profile based on the analysis of a battery of genetic markers (STRs).
- The result is presented as a genetic profile of STRs.
Characterization of lineage markers (maternal/paternal)
- Analysis of specific genetic markers of the mitochondrial DNA (mtDNA), exclusively of maternal transmission, and/or specific markers of the Y chromosome (Y-STRs and/or Y-SNPs), exclusively of paternal transmission.
Genetic characterization of DOGS (genetic profiles/kinship tests)
- Genetic markers used: STRs (short tandem repeat polymorphisms) specific of the canine species. The DNA polymorphisms are determined by fragment size determination with automatic systems (Canine autosomal STRs).
Demo Certificate