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Molecular basis of cystic fibrosis in the Republic of Macedonia
Author(s) -
Petreska L.,
Koceva S.,
Plaseska D.,
Chernick M.,
GordovaMuratovska A.,
Fustic S.,
Nestorov R.,
Efremov GD
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb04285.x
Subject(s) - haplotype , genetics , taqi , microbiology and biotechnology , cystic fibrosis transmembrane conductance regulator , biology , exon , polymerase chain reaction , cystic fibrosis , restriction fragment length polymorphism , gene , genotype
Petreska L, Koceva S, Plaseska D, Chernick M, Gordova‐Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 1998: 54: 203–209. 0 Munksgaard, 1998 Eighty‐three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV‐2c and KM 19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV‐2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single‐strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel elec‐trophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones. were found. Eight known and one new CFTR intragene polymorphisrns were also characterized. The haplotype analysis of the XV‐2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non‐AF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula.