Twenty-Seven Y-Chromosome Short Tandem Repeats Analysis of Italian Mummies of the 16th and 18th Centuries: An Interdisciplinary Research

Abstract

Roccapelago (MO) is a small village located in the Northern Central Apennines, with a population of 31 inhabitants (2014). In 2010, more than 400 individuals dated between the end of the 16th and the 18th century, many of which partially mummified, were discovered in the crypt of the church. This small village, because of its geographical location and surrounding environment, seems to possess the characteristics of a genetic isolate, useful for population genetics and genealogical analyses. Thus, a diachronic study of DNA aimed at investigating the structure and dynamics of the population of Roccapelago over the about 4 centuries, was conducted by analyzing ancient and modern inhabitants of the village. The 14 modern samples were selected by considering both the founder surnames of the village, identified thanks to the study of parish registers, and the grandparent’s criterion. From 25 ancient mummies, morphologically assigned to male individuals, the petrous bone, that harbors high DNA amounts, was selected for the DNA extraction. The quantification and qualitative assessment of total human male DNA were evaluated by a real-time PCR assay using the Quantifiler Trio DNA Quantification Kit and multiplex PCR of 27 Y-chromosome short tandem repeat (Y-STR) markers included in the Yfiler Plus PCR Amplification Kit, with seven rapidly mutating Y-STR loci for improving discrimination of male lineages, was performed to genotype the samples. Y-STRs were analyzed according to the criteria of ancient DNA (aDNA) analysis to ensure that authentic DNA typing results were obtained from these ancient samples. The molecular analysis showed the usefulness of the Y chromosome to identify historically relevant remains and discover patterns of relatedness in communities moving from anthropology to genetic genealogy and forensics.

Penentuan Keturunan dengan Menggunakan DNA pada Tulang Belulang Jenazah : Systematic Review

“…Lemahnya pengetahuan mengenai silsilah keluarga dapat melemahkan relasi yang terjalin antar individu di dalam keluarga besar, ketidakstabilan psikologis dan minimnya pertautan kasih sayang yang dimiliki. Dalam bidang medis pun, pengetahuan mengenai silsilah dapat berhubungan dengan variasi populasi yang dinamis, distribusi dan penampakan dari fenotip dan ciri khusus seseorang, hubungan keluarga, kekuatan hubungan jenis kelamin, dan penyebaran penyakit (Bini et al, 2021).…”

“…Penentuan keturunan dari sisi DNA membantu mengerti pola dinamika populasi pada jaman dahulu kala, penampakan dan distribusi fentoip, hubungan familia, penentuan jenis kelamin dan penyebaran penyakit. Rute migrasi dan proses terbentuknya kekhasan penduduk berdasar demografi yang terjadi prehistori / sejarah masa lalu diketahui dari tren exogenik, kontribuksi eksternal laki-laki, wilayah sosio klutur dan adanya isolasi geografis yang berpotensi membuat kode genetik antar individu hampir seragam (Aaspollu et al, 2021;Bini et al, 2021).…”

“…Regio tersebut memiliki endapan DNA 50-100 kali lebih tinggi dibandingkan di gigi molar ataupun tulang panjang. Sehingga kualitas DNA dari sampel regio koklea lebih baik, jarang ada alel yang hilang dan jarang ada kontaminasi DNA manusia yang berasal dari luar tubuh (Bini et al, 2021).…”

The Revolution of Animal Genomics in Forensic Sciences

“…Jeffreys was undoubtedly a pioneer in forensic genetics, having been the first to use molecular identification for forensic purposes in the famous Pitchfork case, in which Colin Pitchfork was the first person to be convicted on a genetic basis [47]. More recently, microsatellites, also known as short tandem repeats (STRs), are preferred to minisatellites due to their advantage in the analysis of degraded material [44,48] and their outstanding discriminatory power that provides a virtually unique combination [49,50]. STR markers were first used in the early 1990s; the first multiplex system (QUAD) capable of amplifying four STR markers was designed by the Forensic Science Service in the United Kingdom and, in 1994, was introduced into forensic practices.…”

Methodological Changes in the Field of Paleogenetics

“…However, one should use at least two different multiplexing kits or the same with other primer pairs. For example, for this purpose, a combination of PowerPlex ® ESI Promega and the NGM ™ PCR Amplification Kit (Applied Biosystems, Waltham, MA, USA) was proposed [82][83][84][85]. PCR, while initially useful in this field, has its limits, therefore it was later replaced by more advanced methods.…”