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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.

tom 38

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.

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.

tom 53

nr Supplement 1