Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

Kanavakis, Emmanuel; Tzetis, Maria; Antoniadi, Thalia; Traeger-Synodinos, Joanne; Doudounakis, Stavros; Adam, George; Matsaniotis, Nikos; Kattamis, Christos

doi:10.1007/bf00210426

Cited by 24 publications

(20 citation statements)

References 14 publications

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“…Mutation frequencies used for population comparisons were derived from the compendium gathered by The Cystic Fibrosis Genetic Analysis Consortium (TCFGAC) (1994), supplemented with data for Greece by Kanavakis et al (1995). Only samples larger than 50 CF chromosomes were used, pooled by country independently for every mutation.…”

Section: Methodsmentioning

confidence: 99%

“…Of these, N1303K, G542X, R347P and 3849 + 10 kb C→T belong to the group of CF defects which are relatively common in other populations (TCFGAC 1994). A comparison of the frequency of these mutations in Bulgaria and in other European as well as Middle Eastern populations (TCFGAC 1994;Kanavakis et al 1995) is shown in Table 4. The frequency of N1303K in Bulgarians was relatively high (6.73%), the highest value reported for a European population.…”

Section: ∆F508mentioning

confidence: 99%

“…The 2-bp deletion, 1677delTA, has been found mainly in Georgians, Bulgarians, Turks and Greeks and occasionally in others (one Russian and one Greek Cypriot) Kanavakis et al 1995). This mutation is located in exon 10 of the CFTR gene, i.e.…”

Section: Rare and Private Mutationsmentioning

confidence: 99%

“…Apart from Bulgaria, R1070Q has also been found in two Greek (Kanavakis et al 1995), one Rumanian and one Albanian (Mercier et al 1993) patient and may thus be confined to Balkan populations. Unlike exon 10, however, exon 17b, where this mutation is located, is not considered a mutation hot spot and is rarely investigated.…”

Section: Rare and Private Mutationsmentioning

confidence: 99%

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Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

et al. 1997

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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% of the mutant alleles were identified, yielding a total of 25 different mutations, of which only 7 occurred at frequencies higher than 1%. The findings were compared to other European populations and to the distribution of phenylketonuria mutations. Genetic distances and population trees demonstrated that in the south-eastern tip of Europe, the overall distribution of CF mutations and polymorphic haplotypes is very close to that of Mediterranean populations, with a high frequency of N1303K and G542X, a large number of rare mutations and a prevalence of the 23 31 13 haplotype in association with deltaF508. These findings are consistent with a main role for the Neolithic expansion in the shaping of the CF mutation spectrum in Bulgaria and southern Europe.

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Section: Methodsmentioning

confidence: 99%

Section: ∆F508mentioning

confidence: 99%

Section: Rare and Private Mutationsmentioning

confidence: 99%

Section: Rare and Private Mutationsmentioning

confidence: 99%

See 2 more Smart Citations

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

et al. 1997

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“…In general, heterogeneity for CF mutations increases in the north-south and west-east direction, along with a decrease in the frequency of the dF508 mutation. The Mediterranean area has the highest CFTR heterogeneity, making genetic diagnosis by mutation analysis difficult Claustres et al, 1993;Chillon et al, 1994a,b;Chevalier-Porst et al, 1994;Savov et al, 1994;Bonizzato et al, 1995;Kanavakis et al, 1995).…”

Section: Introductionmentioning

confidence: 98%

Prenatal Diagnosis of Cystic Fibrosis in a Highly Heterogeneous Population

et al. 1996

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Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

Syrrou¹,

Patsalis²,

Georgiou³

et al. 1996

Am. J. Med. Genet.

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The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR‐1 gene provides evidence of a limited number of “founder” chromosomes and predisposing high‐risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (≥ 33) were associated with haplotypes 194‐147, 194‐151, 194‐153, and 204‐155. The data provide evidence for founder chromosomes and high‐risk haplotypes in the Hellenic population. © 1996 Wiley‐Liss, Inc.

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Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

Cited by 24 publications

References 14 publications

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

Prenatal Diagnosis of Cystic Fibrosis in a Highly Heterogeneous Population

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

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