PubMed · 4593485
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P Altunkov. 1973. [Prof. Ivan Karamishev].. https://pubmed.ncbi.nlm.nih.gov/4593485/
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All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype-genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype.
The accumulation of radionuclides in Black Sea marine ecosystems was investigated by low level gamma spectrometry. Artificial as well as natural radionuclides were determined in bottom sediments samples from 35 reference locations along the Bulgarian Black Sea coast, evenly distributed from the Rumanian to the Turkish border including the main Black Sea resorts and rivers. The measurement of radionuclides in sea bed sediments was carried out during six consecutive seasons using a HPGe detector. The data obtained show that the nuclide concentrations depend strongly on the sediment nature. Results for sandy sediments are within close range, while those for slime and silt vary to a much greater extent. The radionuclide content in the sandy sediments of the main Black Sea resorts is at the lowest limit of the determined values. Small seasonal changes of radionuclide concentration in sandy sediments were observed while greater variations in slime and silt occur. From the data obtained 134Cs/137Cs and 137Csmeas/137CsChern ratios are calculated to determine the Chernobyl part of the measured 137Cs. The activities determined in the sediments for natural radionuclides correspond to those cited in the literature for natural levels, showing no additional anthropogenic contamination. A data base for the nuclide concentration values was created which will enable the modeling of radionuclide transfers by estimation of their concentration variations, accumulation and influence on the marine ecosystems.
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