Giuseppina Casu


Area of interest:

Giuseppina Casu obtained her degree of Biomedical Laboratory Technician at the University of Sassari in 1994, at present she works as technical assistant at the IRGB-CNR since 1996. Her research has almost always focused on the study of multifactorial diseases (kidney stones, hypertension) in isolated Sardinian Populations. Since 2008 to 2018, following an agreement between the IRGB and the Veterinary Physiology Institute of the University of Sassari, she participated in the project concerning the enhancement and conservation of the goat heritage in Sardinia. Furthermore, in the meantime she also collaborated to a study focusing on thalassemia in Vietnam.  

Her activities were based on the application of the main molecular biology techniques, such as: DNA extraction, with the saline method and with the Qiagen Kit, amplification of DNA with PCR, DNA sequencing with the ABI PRISM 3130 XL Genetic Analyzer automatic sequencer and DNA fragmentation with restriction endonucleases.   

Since 2020 she works on the detection and quantization of genetic mutations of DNA extracted from paraffin-embedded tumor tissue of cholangiocarcinoma and thyroid patients using the technique of Pyrosequencing with the PyroMark Q24 Qiagen version 2.0.6. 

Most significant publications:


Doro, Maria G.; Casu, Giuseppina; Frogheri, Laura; Persico, Ivana; Triet, Le Phan Minh; Hoa, Phan Thi Thuy; Hoang, Nguyen Huy; Pirastru, Monica; Mereu, Paolo; Cucca, Francesco; Masala, Bruno

Molecular Characterization of beta-Thalassemia Mutations in Central Vietnam. Journal Article

In: Hemoglobin, 41 (2), pp. 96–99, 2017, ISSN: 1532-432X 0363-0269.

Abstract | Links | BibTeX


Doro, Maria Grazia; Piras, Daniela; Leoni, Giovanni Giuseppe; Casu, Giuseppina; Vaccargiu, Simona; Parracciani, Debora; Naitana, Salvatore; Pirastu, Mario; Novelletto, Andrea

Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes Journal Article

In: PloS One, 9 (4), pp. e95969, 2014, ISSN: 1932-6203.

Abstract | Links | BibTeX


Piras, Daniela; Doro, Maria Grazia; Casu, Giuseppina; Melis, Paola Maria; Vaccargiu, Simona; Piras, Ignazio; Parracciani, Debora; Stradoni, Roberta; Frongia, Bruno; Lai, Graziano; Sale, Salvatore; Cattari, Walter; Piras, Roberto; Querci, Ombretta; Demuro, Piergiorgio; Cui, Sandro; Atzori, Franco; Mancosu, Marco; Marchiori, Francesca; Cammelli, Rossana; Spiga, Alessandra; Loddo, Pier Paolo; Pili, Gianfranco; Boi, Roberto; Argiolas, Giuseppe; Mereu, Paolo; Leoni, Giovanni Giuseppe; Naitana, Salvatore; Pirastu, Mario; Novelletto, Andrea

Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock Journal Article

In: PloS One, 7 (2), pp. e30785, 2012, ISSN: 1932-6203.

Abstract | Links | BibTeX


Tore, S.; Casula, S.; Casu, G.; Concas, M. P.; Pistidda, P.; Persico, I.; Sassu, A.; Maestrale, G. B.; Mele, C.; Caruso, M. R.; Bonerba, B.; Usai, P.; Deiana, I.; Thornton, T.; Pirastu, M.; Forabosco, P.

Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis Journal Article

In: PLoS Genet, 7 (1), pp. e1001281, 2011.

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Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits Journal Article

In: Hum Genet, 109 (2), pp. 198–209, 2001.

Abstract | BibTeX