Analiza srodnosti i utvrđivanja Kenny - Caffey sindroma u kosturima iz kasnosrednjovjekovnog groba u okolici Dubrovnika

master's thesis

• Title (english): Analysis of kinship and detection of Kenny - Caffey syndrome in skeletons recovered from midieval grave in Dubrovnik area
• Author: Mateja Hajdinjak
• Mentor: Mario Šlaus (mentor)
• Mentor: Inga Marijanović (mentor)
• Committee member: Inga Marijanović (predsjednik povjerenstva)
• Committee member: Mario Šlaus (član povjerenstva)
• Committee member: Damjan Franjević (član povjerenstva)
• Committee member: Mirjana Kalafatić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2013-02-15, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Na arheološkom nalazištu Sveti Petar Zvekovica pored Dubrovnika, u kasnosrednjovjekovnom grobu, pronađeni su ostaci odrasle ženske osobe i djeteta. Na kostima odrasle ženske osobe uočene su morfološke promjene karakteristične za Kenny – Caffey sindrom, rijedak kongenitalni poremećaj proporcionalnog patuljastog rasta. Morfološke promjene jedinstvene za Klippel – Feil sindrom, još jedan iznimno rijedak poremećaj, uočene su na kostima djeteta. Kako bi odgovorili na pitanje jesu li dvije osobe u međusobnom srodstvu ili su u isti grob smještene zbog svojih morfoloških obilježja, iz njihovih skeletnih ostataka smo izolirali DNA i analizirali srodnost pomoću PowerPlex® ESI 17 System kita i Investigator® DIPplex kita. Zbog oštećenja molekula DNA, do kojih dolazi nakon smrti svakog organizma, i prisutnosti inhibitora, dobiveni su parcijalni DNA profili na temelju kojih nismo mogli potvrditi roditeljstvo, ali ga ni u potpunosti isključiti. Alelno – specifičnom lančanom reakcijom polimerazom nismo uspjeli potvrditi Kenny – Caffey sindrom na molekularno – genetičkom nivou zbog prevelikog oštećenja molekula DNA.

Abstract (english)

Skeletal remains of a woman and a child were found in a common medieval tomb during excavations at the archaeological site Sveti Petar Zvekovica near the city of Dubrovnik. Morphological analysis of skeletal remains showed that the woman had the main characteristics of the Kenny - Caffey syndrome, a rare congenital disorder of proportionate dwarfism, and the child had morphological features of the Klippel - Feil syndrome, another rare disorder. To answer the question whether the two skeletons belonged to a mother and a child, or if they were placed together in a common tomb because of their morphological features, we extracted DNA from skeletal remains and analyzed kinship using two commercial kits. Due to severe degradation of DNA and presence of inhibitors, we weren't able to confirm kinship nor disprove it and, also, we couldn't prove the Kenny - Caffey syndrome at the molecular level using allele – specific PCR.

• Keywords: kongenitalni poremećaj; drevna DNA; inhibitor; polimorfizam; DNA profil
• Keywords (english): congenital disorder; ancient DNA; inhibitor; polymorphism; DNA profile
• Language: croatian
• URN:NBN: urn:nbn:hr:217:462076
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-04-27 08:15:28