PL EN


Preferences help
enabled [disable] Abstract
Number of results
2006 | 47 | 3 | 269-272
Article title

Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province (Poland)

Content
Title variants
Languages of publication
EN
Abstracts
EN
The homozygous 657del5 mutation, called Slavic mutation, of the NBS1 gene, causes the Nijmegen Breakage Syndrome (NBS). This syndrome is connected with a high incidence of malignancies in early childhood. A high frequency of NBS heterozygotes was found among patients with melanoma, breast, ovary and prostate cancer. The aim of our research was to determine the frequency of 657del5 mutation of the NBS1 gene in the population of Wielkopolska province. For this purpose, we analysed blood samples from anonymous Guthrie cards. In a group of 2090 newborns from the whole province, we found 16 heterozygous mutation carriers. The frequency of 1/131 is higher than 1/190 reported for populations from other regions in Poland. We observed differential regional distribution of heterozygous 657del5 mutation carriers within the province: among 464 samples from the eastern part of Wielkopolska we found 6 carriers (1/77), in contrast to the southern part without any carrier among 625 samples analysed. The high mean frequency of heterozygous 657del5 mutation (1/131) in Wielkopolska province may be associated with cancer incidence in this region.
Keywords
Discipline
Year
Volume
47
Issue
3
Pages
269-272
Physical description
References
Document Type
ARTICLE
Publication order reference
I. Ziolkowska, Institute of Human Genetics of the Polish Academy of Sciences, Strzeszynska 32, 60?479 Poznan, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-b958fcd9-4f42-34a5-84e3-6a6b4ba5ee3f
Identifiers
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.