PP183. CISTIC FIBROSIS MUTATION TESTING IN ALBANIA
GRIGOR ZORAQI1 , Lila Shundi2, Evda Vevecka3, Halim Kosova1 1. Center of Mol. Diagn. and Gen. Research, University Hospital of Obstetrics and Gynecology of Tirana, Albania; 2. Institute of Public Health, Tirana, Albania; 3. Center of Cystic E-mail: gzoraqi@hotmail.com.
*Corresponding Author:
page: 130

Abstract

We present data on the molecular basis of cystic fibrosis (CF) in Albania. The sample of 116 CF chromosomes analysed is representative of the 58 unrelated patients bearing CF from the National Center of CF, in the Pediatric Hospital of Tirana. DNA from the patients were studied during 2004-2006 in the Center of Molecular Diagnosis and Genetic Research in Tirana. We used PCR-OLA kit from Applied Biosystems, that identified 31 mutations.

All patients were diagnosed based on clinical data and by the sweat analysis of chloride. The age of the patiens varied from 1,5 months to 22 years and they represent all the CF patients in Albania.

In our study we have identified only 5 mutations and the most frequent was delF508  mutation with 77,6%. The frequencies of the other 4 mutations ranged from 4,3% to 2,6% as follow: 621+1 G>T (4,3%), G85E (3,5%), G542X (2,6%) and 711+1 G>T (2,6%).

Our findings were compared to other European populations. The high frequence of delF508 (77,6%), typical for Northern Europe countries, and the lack of N1303K mutation in Albanian population, can open an interesting discussion about the origin of the Albanian population (Rendine S, et al., Ann. Hum. Genet., 61, 411, 1997).

The three most frequent mutation in Albania, 621+1 G>T (4,3%), G85E (3,5%), and 711+1 G>T (2,6%) are different from Mediterranean countries (found under 1%). From the 4 CF mutations frequent wordwide only 2 of them were detected in Albanian population, del F508 and G542X, and moreover the N1303K and R553X mutations were not found.

The 14 CF mutation test was performed in the CF Albanian patients in the study of Nunes V, et al., Human Genetics 87(6): 737, 1991 and Novelli et al., Am. J. Hum. Genet., 50 (4) 875, 1992. From the 14 mutations analysed the authers found only 2 mutations, delF508 and G542X.




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