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1.
Genetika ; 36(7): 980-5, 2000 Jul.
Artigo em Russo | MEDLINE | ID: mdl-10994504

RESUMO

Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated region of the myotonin protein kinase gene was analyzed in healthy people from several Eastern European populations (Russians, Moldovans, Belarussians, Komis, Chuvashes, Udmurts, Bashkirs, Tatars, Maris, and Mordovians). In total, 26 alleles of the CTG repeat were found, the repeat number ranging from 5 to 33 (alleles with six and seven repeats were not detected). The heterozygosity of individual populations varied from 61 to 91%. In the total sample combining all populations, the observed and expected heterozygosities did not differ (fixation index -0.0022) suggesting selective neutrality of the normal polymorphism of the CTG repeat in the myotonin protein kinase gene.


Assuntos
Cromossomos Humanos Par 18 , Polimorfismo Genético , Proteínas Quinases/genética , Proteínas Serina-Treonina Quinases , Repetições de Trinucleotídeos , Alelos , Mapeamento Cromossômico , Europa Oriental , Heterozigoto , Miotonina Proteína Quinase
5.
Mol Gen Mikrobiol Virusol ; (1): 19-23, 1987 Jan.
Artigo em Russo | MEDLINE | ID: mdl-3561422

RESUMO

The electrophoretic mobilities of the collagen and procollagen type I and III chains synthesized by the fibroblasts isolated from patients with type I Ehlers-Danlos syndrome as well as a set of peptides obtained by splitting of pro alpha 1(I) and pro alpha 2(I) type I procollagens by cyanbromide are not different from the normal ones. The fact demonstrates the absence of long insertions or deletions, or the sufficient defects in intracellular chain modifications. The changes were also nor registered for the ratio of type I and III collagens from the digested by pepsin preparations of protein accumulating in the culture media of the cultured skin fibroblasts from patients. The studied strains of cultured fibroblasts from patients suffering the Ehlers-Danlos syndrome have the trend to increased accumulation of partially processed chains of proc alpha 1(I) and proc alpha 2(I) type I procollagen and to the increased ratio of pro alpha 1(I) to pro alpha 2(I).


Assuntos
Síndrome de Ehlers-Danlos/metabolismo , Pró-Colágeno/biossíntese , Sequência de Aminoácidos , Células Cultivadas , Síndrome de Ehlers-Danlos/genética , Eletroforese em Gel de Poliacrilamida , Fibroblastos/metabolismo , Humanos , Hidrólise , Biossíntese Peptídica , Peptídeos/genética , Pró-Colágeno/genética , Pele/metabolismo
7.
Biull Eksp Biol Med ; 92(7): 74-6, 1981 Jul.
Artigo em Russo | MEDLINE | ID: mdl-7295949

RESUMO

The bifunctional and antitumor alkylating agents embichin and its aromatic derivatives sarcolysin and chlorfenacyl remarkably differ in DNA-protein cross-links induction in Chinese hamster cell cultures in vitro. The differences involve the concentration necessary for cross-linkage, the time of cross-links emergence, and their reparation. Since all three compounds have the same alkylating group, it is obvious that the differences seen in the cross-linkage arise from the structure of aromatic groupings introduced into the molecule.


Assuntos
Alquilantes/farmacologia , Antineoplásicos/farmacologia , Reparo do DNA , DNA/metabolismo , Nucleoproteínas/metabolismo , Animais , Células Cultivadas , Fenômenos Químicos , Química , Cricetinae , Cricetulus , Fibroblastos , Mecloretamina/farmacologia , Melfalan/farmacologia
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