It is generally impossible to collect blood or to culture tissue from a macerated stillborn fetus. Accurate genotyping of such a fetus may, however, be critical for the diagnosis of genetic diseases and appropriate genetic counseling. In the East Flanders Prospective Twin Study, placental tissue of twin and triplet sets, in some of which one or both members were stillborn and macerated, has been stored at -20 degrees C. Of all these fetuses, sex and zygosity could be determined accurately on the placental deoxyribonucleic acid. We tested the possibility of nongenetic changes in deoxyribonucleic acid that result from maceration or tissue degradation over time in storage on placental samples from monochorionic twins in which only one member was stillborn and macerated. The deoxyribonucleic acid variants in these monozygotic twins were identical whether or not either cotwin was macerated. Thus deoxyribonucleic acid variants can be determined accurately on the placental tissue of macerated fetuses, even after prolonged freezing.
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http://dx.doi.org/10.1016/0002-9378(91)90518-v | DOI Listing |
Forensic Sci Int Genet
December 2024
Department of Forensic Sciences, Oslo University Hospital, Oslo, Norway.
With the advent of commercial DNA databases, investigative genetic genealogy (IGG) has emerged as a powerful forensic tool, rivalling the impact of STR analyses, introduced four decades ago. IGG has been frequently applied in the US and tested in other countries, but never in Norway. Here, we apply IGG to three cold criminal cases and successfully identify the donor of the DNA in two of these cases.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
Forensic DNA Division, National Forensic Service, Wonju, South Korea. Electronic address:
Y-chromosomal short tandem repeats (Y-STRs) at rapidly mutating (RM) loci have been suggested as tools for differentiating paternally related males. RMplex is a recently developed system that incorporates 26 RM loci and four fast-mutating (FM) loci, targeting 44 male-specific loci. Here, we evaluated the RMplex by estimating Y-STR mutation rates and the overall differentiation rates for 542 Korean father-son pairs, as well as the genetic population values for 409 unrelated males.
View Article and Find Full Text PDFJCO Precis Oncol
January 2025
Sarcoma Translational Research Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Purpose: Less than 5% of GI stromal tumors (GISTs) are driven by the loss of the succinate dehydrogenase (SDH) complex, resulting in a pervasive DNA hypermethylation pattern that leads to unique clinical features. Advanced SDH-deficient GISTs are usually treated with the same therapies targeting KIT and PDGFRA receptors as those used in metastatic GIST. However, these treatments display less activity in the absence of alternative therapeutic options.
View Article and Find Full Text PDFJCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
Int J Surg
October 2024
Department of Pharmacy, College of Medicine and Health Sciences, Ambo University, Ambo, Ethiopia.
Cervical cancer ranks as the fourth most common cancer among women globally, posing a significant mortality risk. Persistent infection with high-risk human papillomavirus (HPV) is the primary instigator of cervical cancer development, often alongside co-infection with other viruses, precipitating various malignancies. This study aimed to explore recent biotechnological advances in understanding HPV infection dynamics, host interactions, and its role in oncogenesis.
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