1997
DOI: 10.1007/s004390050398
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Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

Abstract: We present data on the population genetics of cystic fibrosis (CF) in Bulgaria, obtained by comprehensive mutation analysis and the construction of intragenic microsatellite haplotypes. The sample of 262 CF alleles analysed is representative of the patients diagnosed during the period of referral and of the three main ethnic groups in the country. deltaF508 accounted for 100% of Gypsy CF alleles, which thus differed significantly from both Bulgarians and ethnic Turks. In Bulgarian and Turkish CF patients, 92% … Show more

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Cited by 24 publications
(19 citation statements)
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References 28 publications
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“…This mutation is relatively common among non-∆F508 CF alleles along the Black Sea, confirming previous reports (Ivaschenco et al 1991;Angelicheva et al 1997), and should be included in the diagnostic panel for the molecular analysis of CF patients from this region.…”
Section: Discussionsupporting
confidence: 81%
See 1 more Smart Citation
“…This mutation is relatively common among non-∆F508 CF alleles along the Black Sea, confirming previous reports (Ivaschenco et al 1991;Angelicheva et al 1997), and should be included in the diagnostic panel for the molecular analysis of CF patients from this region.…”
Section: Discussionsupporting
confidence: 81%
“…Among these mutations, L571S was first reported by Angelicheva et al (1997) in the paternal allele of a CF patient of Turkish origin and the present study shows that the homozygous presence of this mutation leads to a severe phenotype with pancreatic insufficiency and pulmonary involvement in the Turkish CF patient. Table 1 This mutation has not been observed in other populations so far.…”
Section: M1028imentioning
confidence: 86%
“…Although a group of relatively common CF alleles occurs in certain populations, the majority of mutations are rare (Cystic Fibrosis Genetic Analysis Consortium 1994). However, a considerable portion of CF alleles has eluded detection despite extensive screening by current polymerase chain reaction (PCR)-based mutation detection techniques (Claustres et al 1993;Dörk et al 1994;Bonizzato et al 1995;Verlingue et al 1995;Angelicheva et al 1997;Casals et al 1997;Tzetis et al 1997;Onay et al 1998). In the present study, we report a large genomic deletion that accounts for many of the previously unidentified CF chromosomes in Central and Eastern Europe.…”
Section: Introductionmentioning
confidence: 97%
“…Mutations underlying FH in Bulgaria are largely unknown, but a broad spectrum of mutations in LDLR is expected, given the genetic heterogeneity of the Bulgarian population-well known from studies of other genes (Kalaydjieva et al 1992;Bronzova et al 1994;Angelicheva et al 1997). The present report provides the first data about the point mutation spectrum in six exons of LDLR, known to harbor more than 60% of the mutations in other population groups.…”
Section: Introductionmentioning
confidence: 99%