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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-Mateeva R., Reis A., Rutkiewicz E.

Journal of Applied Genetics

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1997

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tom 38

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nr 3

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 ΔF508. 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

Genotyping intragenic neutral markers allows genetic homogenization of primary ciliary dyskinesia (PCD) families before screening for causative mutations in the DNAH5 gene

88%

Tomaszewska A., Voelkel K., Rutkiewicz E., Witt M., Zietkiewicz E.

Acta Biochimica Polonica

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2006

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tom 53

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nr Supplement 1

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

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tom 48

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nr 1

85-88

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+l0kbC > 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

Genetic background primary ciliary dyskinesia and Kartagenery syndrome (PCD/KS) in Polish patients-analysis of mutations in the DNAH5 gene and search for possible association with the major mutation in the CFTR gene

76%

Srzypczak U., Voelkel K., Modrzynska K., Rutkiewicz E., Witt M., Zietkiewicz E.

Acta Biochimica Polonica

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2006

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tom 53

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nr Supplement 1

5

Neutral haplotype diversity in the CFTR gene in healthy Polish population and in cystic fibrosis patients carrying four most frequent CF mutations

76%

Voelkel K., Joskowiak A., Nawracala M., Rutkiewicz E., Skrzypczak U., Witt M., Zietkiewicz E.

Acta Biochimica Polonica

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2006

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tom 53

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nr Supplement 1

6

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

76%

Majka L., Pogorzelski A., Mlynarczyk W., Zebrak J., Rutkiewicz E., Nowicka A., Witt M.

Journal of Applied Genetics

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2001

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tom 42

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nr 3

Ograniczanie wyników

3 Acta Biochimica Polonica

3 Journal of Applied Genetics

6 Rutkiewicz E.

6 Witt M.

4 Zietkiewicz E.

3 Voelkel K.

2 Pogorzelski A.

2 Skrzypczak U.

1 Joskowiak A.

1 Majka L.

1 Mlynarczyk W.

1 Modrzynska K.

1 Nawracala M.

1 Nowicka A.

1 Reis A.

1 Srzypczak U.

1 Tomaszewska A.

1 Varon-Mateeva R.

1 Zebrak J.

1 2007

3 2006

1 2001

1 1997

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

Genotyping intragenic neutral markers allows genetic homogenization of primary ciliary dyskinesia (PCD) families before screening for causative mutations in the DNAH5 gene

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

Genetic background primary ciliary dyskinesia and Kartagenery syndrome (PCD/KS) in Polish patients-analysis of mutations in the DNAH5 gene and search for possible association with the major mutation in the CFTR gene

Neutral haplotype diversity in the CFTR gene in healthy Polish population and in cystic fibrosis patients carrying four most frequent CF mutations

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