Molecular data on cystic fibrosis in Bulgaria |
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Authors: | Luborodna Kalaydjieva Jordan Antov Juliana Bronzova Violeta Vladimirova Jürgen Horst |
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Institution: | 1. Laboratory of Molecular Pathology, Medical Academy, 2 Zdrave St., Sofia, 1431, Bulgaria 2. Institut für Humangenetik der Universit?t, Vesaliusweg 12-14, D-4400, Münster, Germany
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Abstract: | Summary A group of 42 cystic fibrosis (CF) patients and 80 heterozygote carriers was analysed for determining the prevalent CF haplotypes
and the frequency of ΔF508. The “high-risk” haplotype B (XV2c-KM19/1 2) was found in 66% of CF chromosomes. The prevalent
normal haplotypes were A (1 1) and B (2 1). The deletion was detected in 54 CF chromosomes (56%), homozygotes constituting
35% of all CF patients. In 88% of cases the mutation was linked to haplotype B, and in 12% to haplotype D (2 2). Chromosomes
that did not have ΔF508 were found to be evenly distributed among all four XV2c-KM19 haplotypes. The use of restriction fragment
length polymorphisms and direct detection of the mutation makes 94% of CF families fully informative for prenatal analysis. |
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