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© Kamla-Raj 2002 Int J Hum Genet, 2(1): 41-44 (2002)
Molecular genetic diagnostic difficulties in two Hungarian Gypsy samples with cystic fibrosis
Emőke Endreffy1, Krisztína Németh2, György Fekete2, Kálmán Gyurkovits3, József Stankovics4, Ágnes Szabó1, Enikő Sólyom5, Tamás Dolinay6, István Raskó7 and Aranka László1
1. Department of Pediatrics, Albert Szent-Györgyi Medical Center, University of Szeged 2. II. Department of Pediatrics, Semmelweis University, Budapest 3. County Hospital for Chest and Heart Diseases, Mosdós 4. Department of Pediatrics, Medical University, Pécs 5. Postgraduate Medical University, Miskolc 6. Pediatric Unit, Szabolcs-Szatmár-Bereg County Hospital, Nyíregyháza 7. Biological Research Centre, Institute of Genetics, Hungarian Academy of Sciences, Szeged, Hungary
Key Words cystic fibrosis; DF 508 mutation, Hungarian Europeans and Gypsies.
Abstract The frequency of DF508 mutation in the CFTR gene was compared in Gypsy and European samples from 3 different geographical regions of Hungary. The frequency of DF508 mutation in a total of 21 Gypsy patients was 43%, with 0.144 homozygosity index. This frequency was 50% with 0.127 homozygosity index in a total of 531 European Hungarian patients. Among the Gypsy patients 52 % had unknown mutations, but not the G542X, G551D, R553X and N1303K ones. However, there was a geographical difference in the distribution of homozygous DF508 mutations. In the two Gypsy samples of 13 Gipsy patients from north-east Hungary, only one possessed DF508 homozygote genotype, while all 7 Gypsy patients harboured this genotype from south-west Hungary. The difference in the occurrence of this mutation between the two geographically different Hungarian Gypsy samples can be explained by their different gene pools connected with their previous and present location, genetic drift and their isolation from each other. These findings need to be considered when planning any population screening programme for CF.
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