PubMed · 3373176
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J W Morris, C H Brenner. Bloodstain classification errors revisited.. https://doi.org/10.1016/s0015-7368(88)72802-9
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Evidentiary items sometimes contain an insufficient quantity of DNA for routine forensic genetic analysis. These so-called low copy number DNA samples (< 100 pg of genomic DNA) often fall below the sensitivity limitations of routine DNA analysis methods. Theoretically, one way of making such intractable samples amenable to analysis would be to increase the number of starting genomes available for subsequent STR (short tandem repeat) analysis by a whole genome amplification strategy (WGA). Although numerous studies employing WGA have focused primarily on clinical applications, few in-depth studies have been conducted to evaluate the potential usefulness of these methods in forensic casework. After an initial evaluation of existing methods, a modified WGA strategy was developed that appears to have utility for low copy number forensic casework specimens. The method employs a slight, but important, modification of the "improved primer extension preamplification PCR" method (I-PEP-PCR), which we term mIPEP (modified-I-PEP-PCR). Complete autosomal STR and Y-STR (Y chromosome short tandem repeat) profiles were routinely obtained with 5 pg of template DNA, which is equivalent to 1-2 diploid cells. Remarkably, partial Y- and autosomal STR profiles were obtained from mIPEP-treated DNA recovered from bloodstains exposed to the outside environment for 1 year whereas non-mIPEP-treated samples did not produce profiles. STR profiles were obtained from contact DNA from single dermal ridge fingerprints when the DNA was subjected to prior mIPEP amplification but not when the mIPEP step was omitted.
UNLABELLED: Sex identification of dry blood is of crucial importance in forensic medicine. SUBJECTS AND METHODS: Sixty normal (with matching phenotypic and genotypic sex) persons (36 males and 24 females), and 7 cases of sex reverse, i.e., persons with one genotypic sex and ambiguous or external genitalia of the opposite sex (3 phenotypic females with Swyer syndrome and the 46,XY karyotype, and 4 phenotypic Klinefelter-like males with the 46,XX karyotype) were subjected to sex identification by FISH and PCR using bloodstains. RESULTS: The FISH technique using an X/Y cocktail probe (DXZI & DYZI, Oncor) has identified the sex correctly in 91.69% of interphase nuclei of the 36 males of the study, and in 92.29% of cells of the 24 females and incorrectly identified the 3 phenotypic females with Swyer syndrome as males and the 4 Klinefelter-like males as females. The 60 normal individuals in the study were correctly typed to their phenotypic sex by the 2 PCR methods used, i.e., the single PCR using the amelogenin sequence specific for the X and Y chromosomes and the multiplex PCR using SRY gene (male-specific) and the AR gene (X-specific). Out of the 7 sex reverse cases, one Klinefelter-like male was incorrectly identified by PCR as female due to the absence of amplification of the SRY gene and the amelogenin male-specific 788 bp fragment. CONCLUSION: The present study demonstrates that both FISH and PCR techniques are fast, easy to perform, reliable and efficient for sex identification but PCR is more accurate. It also emphasises that the sex identified is the genotypic sex which does not necessarily correspond to the phenotypic one and if evidences at the scene of crime indicate opposite sex of the accused, persons with sex reverse have to be ruled out using different X- and Y-specific probes and PCR.
We report the results of the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) Collaborative Exercise 2002-2003 on mitochondrial DNA (mtDNA) analysis. Six different samples were submitted to the participating laboratories: four blood stains (M1-M2-M3-M4), one mixture blood sample (M5), and two hair shaft fragments (M6). Most of the labs reported consensus results for the blood stains, slightly improving the results of previous collaborative exercises. Although hair shaft analysis is still carried out by a small number of laboratories, this analysis yielded a high rate of success. On the contrary, the analysis of the mixture blood stain (M5) yielded a lower rate of success; in spite of this, the whole results on M5 typing demonstrated the suitability of mtDNA analysis in mixture samples. We have found that edition errors are among the most common mistakes reported by the different labs. In addition, we have detected contamination events as well as other minor problems, i.e. lack of standarization in nomenclature for punctual and length heteroplasmies, and indels. In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors.