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1

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

100%
Ziolkowska I., Mosor M., Nowak J.
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issue 3
269-272
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.
2

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany

88%
Maurer M., Hoffmann K., Sperling K., Varon R.
Journal of Applied Genetics
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2010
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vol. 51
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issue 2
211-214
EN
Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5. Due to an unexpectedly high incidence of NBS patients (homozygous for the c.657-661del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of this mutation in this area and compared it to another German region. We found a high carrier frequency of 1/176 for the c.657-661del5 mutation among newborns in Northeast Bavaria, while the frequency of the mutation in Berlin was 1/990. We further studied families from a Slavic population isolate, the Sorbs, in the Lusatian region in Northeast Saxony, and revealed a prevalence of the c.657-661del5 mutation of 1/34. Whereas the Slavic origin of the Sorbs has been known, we attribute the surprisingly high frequencies of c.657-661del5 mutation in Bavaria (similar to frequencies of this mutation in various Eastern European countries) to a high percentage of people of Slavic origin in Northeast Bavaria.
3
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Reduced degree of long-range phase synchrony in pathological human brain

75%
Bhattacharya J.
Acta Neurobiologiae Experimentalis
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2001
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vol. 61
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issue 4
309-318
EN
In this paper multivariate spontaneous EEG signals from three broad groups of human subjects - control, seizure, and mania - were studied with the aim of investigating the possible effect of these pathologies on the degree of phase synchronization between cortical areas. The degree of phase synchrony was measured by two recently developed measures which are more suitable than classical indices like correlation or coherence when dealing with nonlinear and non-stationary signals like the EEG. Signals were reduced to seven frequency bands (delta, theta, alpha-1, alpha-2, beta-1, beta-2 and gamma) which were statistically compared between the normal and the other two groups. It was found that the degree of long-range synchrony was significantly reduced for both pathological groups as compared with the control group. No clear differences were found in the degrees of short-range synchrony.
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