TWO CASES OF ALLELES WITH COMPLEX GENOTYPES AMONG CYSTIC FIBROSIS PATIENTS FROM CROATIA
Tanacković G1, Barišić I2, Knežević J1, Pavelić J1,*
*Corresponding Author: Professor Dr. Jasminka Pavelić, Division of Molecular Medicine, Rudjer Bošković Institute, Bijenička cesta 54, HR-10002 Zagreb, Croatia; Tel: +385-1-4560-926; Fax: +385-1-456-1010; E-mail: jpavelic@rudjer.irb.hr
page: 3

Abstract

Cystic fibrosis, a Mendelian recessive disorder, appears when both alleles carry one mutation. However, the existence of so-called complex genotypes, consisting of mutation and polymorphism at the same allele, are also described. We report here on two different alleles with the same mutation but a different genetic polymorphism, found in two unrelated patients from Croatia. One allele was characterized as G542X+F508C and the other as G542X+ P1290P. Both alleles were found in patients whose second allele was of the DF508 variety.




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