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1

Haplotypes of microsatellite markers of the CFTR gene in Polish and German CF chromosomes suggest an ancient origin of the most frequent cystic fibrosis mutations

100%
Witt M., Varon M. R., Reis A., Rutkiewicz E.
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vol. 38
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issue 3
329-334
EN
In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than DF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17 28/32/38 13; in the German population, a more diverse haplotype association has been detected (23 33 13 and 16 32 13). The 1717 1G >A mutation is associated with the 15/16 7 13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23 30 13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16 29 17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.
2

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

88%
Skrzypczak U., Rutkiewicz E., Pogorzelski A., Witt M., Zietkiewicz E.
Journal of Applied Genetics
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2007
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vol. 48
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issue 3
85-88
EN
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
3

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

88%
Skrzypczak U., Rutkiewicz E., Pogorzelski A., Witt M., Zietkiewicz E.
Journal of Applied Genetics
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2007
|
vol. 48
|
issue 1
85-88
EN
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
4

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

52%
Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.
Journal of Applied Genetics
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2001
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vol. 42
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issue 3
367-377
EN
Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.
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