The International Journal of Romanian Society of Endocrinology / Registered in 1938

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July - September 2013, Volume 9, Issue 3
General Endocrinology

Frentescu L, Budisan L, Benga G

The Profile of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients From Romania in Relationship with the Ethnogenesis of the Romanian People

Acta Endo (Buc) 2013, 9 (3): 349-360
doi: 10.4183/aeb.2013.349

Aim. To correlate the profile of CFTR gene mutations in patients from Romania with the ethnogenesis of Rumanian people. Patients and methods. One hundred sixty-five patients with clinical diagnosis of CF and elevated values at sweat test were included in the study. Samples of EDTA-anticoagulated blood were obtained by venipuncture, sent to our laboratory and DNA was extracted from leukocytes. For the majority of blood samples we used standardized methods for analysis of at least 18 common mutations. Ten DNA samples were analyzed for 38 CFTR mutations with a kit recently introduced in our program of investigations of CFTR gene mutations.Results. The most frequent mutations in CF patients from Romania are F508del (53.6%), G542X (4.6%), W1282X (2.1%) and CFTRdele2,3(21kb) (1.2%). Other mutations were detected at frequencies less than 1.0%. The profile of the CFTR gene mutations in Rumanian patients appears to be very different from its counterpart profile in Romania’s neighbour countries and rather similar with the profile of mutations in France, Italy and Spain (which, similar to Romania, are Neo-Latin countries). A notable difference between Romania and these Neo-Latin countries is the presence of a Slavic mutation, CFTRdele2,3(21kb) in Rumanian patients; this might reflect the Slavic component in the ethnogenesis of Rumanian people.Conclusion. The profile of the CFTR gene mutations in Rumanian patients confirms the overwhelming evidence regarding the ethnogenesis of Rumanian people from the admixture of Dacians or Getae (the ancient autochtonous inhabitants of the territory of present-day Romania) with Roman (or Romanized) legionnaires and colonists, forming the Daco-Roman population (the basis of Rumanian people), who assimilated the Slavs that entered in the territory of present-day Romania in the VIth century.

Keywords: cystic fibrosis, mutations, ethnogenesis, Rumanian people.

Correspondence: Dr. Lucian Frentescu, “Iuliu Hatieganu” University of Medicine and Pharmacy, Dept. of Cell and Molecular Biology, Pasteur 6 Street, Cluj-Napoca, 400349, Romania, E-mail: