Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are utilized for this predictor, five for eye, and six for skin coloration.
View Article and Find Full Text PDFAim: To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions.
Methods: Analysis of an eighth single nucleotide polymorphism (SNP), rs12896399 (SLC24A4), showed a statistically significant association with human eye color (P=0.007) but a rather poor strength of agreement (κ=0.
Validation of testing methods is an essential feature in all scientific endeavors, but it is particularly important in forensics. Due to the sensitive nature of these investigations and the limited sample size it is crucial to validate all employed procedures. This includes novel forensic phenotypic DNA tests, to learn more of their capabilities and limitations before incorporating them as routine methods.
View Article and Find Full Text PDFLow template (LT) DNA testing is a more sensitive method of PCR DNA typing which tests lower quantities of DNA compared to traditional PCR DNA protocols. Methods applied in this testing involve amplification or postamplification efforts to increase detection sensitivity. Establishing the interpretation rules of the results obtained is condition sine qua non for successful incorporation of this valuable technique into forensic casework.
View Article and Find Full Text PDFForensic Sci Int Genet
November 2011
An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics.
View Article and Find Full Text PDFDetailed histopathologic examination remains to be the basis for the diagnosis of hydatidiform mole (HM). However, poor sampling, necrosis, and earlier uterine evacuation can lead to uncertainty in the diagnosis. Also, the criteria are subjective, resulting in considerable interobserver variability.
View Article and Find Full Text PDFAim: To report on the successful use of Laser Capture Microdissection (LCM) as a tool for isolation of human chorionic villi from admixed maternal tissue. Subsequent DNA isolation for forensic short tandem repeat (STR) analysis for parentage testing was performed in two cases of alleged sexual assault of female victims. We also performed validation of the LCM instrument platform, using archival formalin-fixed human fetal products of conception (POC), for which microdissection was utilized to separate maternal (decidua) and fetal (chorionic villus) components.
View Article and Find Full Text PDFObjective: Melanocytomas of the eye are typically benign tumors that may be associated with nevi and melanomas. In this study, we assessed the genetic data of melanocytomas and compared them with nevi and melanomas of both the eyes and the skin.
Design: We microdissected 8 melanocytomas, 13 uveal melanomas, and 10 cutaneous melanomas and analyzed loss of heterozygosity markers on chromosome bands 1p36, 6q22-23.
A tiny fragment of high-grade carcinoma was found in histologic sections and in the paraffin block of a benign cervical polyp from a patient with no clinical evidence of malignancy. Thus, it raised the suspicion of block contamination. No malignant tumor was processed the same day as the polyp; however, a similar tumor had been processed 6 days earlier.
View Article and Find Full Text PDFAim: To present individual body identification efforts, as part of the World Trade Center (WTC) mass disaster identification project.
Methods: More than 500 samples were tested by using polymerase chain reaction (PCR) amplification and short tandem repeat (STR) typing. The extent to which the remains were fragmented and affected by taphonomic factors complicated the identification project.