[Polymorphism and heterozygosity levels of the Russian population of Moscow: data for 22 gene loci coding blood proteins]. / Urovni polimorfizma i geterozigotnosti russkogo naselaniia Moskvy: dannye o 22 gennykh lokusakh, kodiruiushchikh belki krovi.

A group of 1916 Russian men donors was studied for 15 electrophoretic blood protein systems, coded by 22 protein loci: Transferrin (Tf), Haptoglobin (Hp)--2 loci, Group-specific component (Gc), Hemoglobin (Hb)--2 loci, Lactatdehydrogenase (LDH)--2 loci, Malatdehydrogenase (MDH), Erythrocyte esterase (Est)--4 loci, Albumen (Alb), 6-phosphogluconatdehydrogenase (6 PGD), Phosphoglucomutase (PGM)--2 loci, Esterase D (Est D), Adenosindesaminase (ADA), Acid Erythrocyte phosphatase (AcP), Glutamic transaminase (GPT) and Glioxalase-I (GLO-I). Ten loci were defined as polymorphic, the level of heterozygosity for cumulative loci was 0,1435 +/- 0,003. Moscow population was compared to major human races for the set of genetic characters--heterozygosity, correlation coefficient of single locus heterozygosity, a genetic distance. It has been shown that the extent of relation of ethnic groups to Moscow population decreases as follows: Caucasoids, Mongoloids, Negroids.

[Genetic polymorphism and rare variants of alpha 1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel]. / Geneticheskii polimorfizm i redkie varianty al'fa 1-antitripsina v naselenii Moskvy. Issledovanie s pomoshch'iu izoélektrofokusirovaniia v sverkhtonkom gele.

The data are presented on distribution of subtypes and rare variants of Pi system for Moscow population. Serum samples were obtained from 210 families of healthy newborn (father-mother-newborn) from several Moscow maternity hospitals. Phenotypes of alpha 1-antitrypsin were detected by isoelectric focusing in ultrathin layer polyacrylamide gel with the range 3.5-6. In this study 5 common PiM subtypes (except M3M3) were found. The observed distribution of Pi subtypes shows a good agreement with the Hardi-Weinberg equation. The gene frequencies of the subtypes estimated for Moscow population were as follows: PiM1-0.7662, PiM2-0.1779, PiM3-0.0398. They did not show any difference from the corresponding frequencies in other European populations. In the course of our studies, some rare phenotypes, such as MS, MZ, FM and IM that were observed in most European populations, were detected. Furthermore, a very rare variant (MT) which had been only once revealed in European population, was found. The total gene frequency of all rare variants was 0.0162.

[Rare variants of alpha 1-antitrypsin in families having neonates with deformities]. / Redkie varianty alpha 1-antitripsina v gruppe semei s narusheniem razvitiia u novorozhdennykh.

Alpha 1-antitrypsin rare variants' distribution in a group of 196 families with developmental malformations of newborns was investigated. Significantly increased frequencies of rare variants were noted in groups of probands and their mothers, as compared to the control groups. Preferential transmission of rare alleles from mothers to probands is demonstrated.

[Frequency of rare electrophoretic protein variants in normal human beings and in congenital pathology]. / Chastota redkikh élektroforeticheskikh belkovykh variantov u cheloveka v norme i pri vrozhdennoi patologii.

17 blood proteins of infants with rough and multiple congenital malformations (CM), prematurely born infants and sick newborns without developmental anomalies were studied electrophoretically in polyacrylamide and starch gels (62422 locus tests). The control included blood samples of healthy newborns from ordinary maternity hospitals (60234 locus tests). The frequency of rare protein variants in all the cases was higher in sick children than in healthy ones. The frequency of rare genes (corrected for electrophoretically "silent" alleles) was 2.16 X 10(-3) in infants with CM and 0.99 X 10(-4) in the control. Examination of parents of 11 congenitally malformed infants with rare protein variants showed that at least in 5 cases such variants were absent in the parents and might be attributed to "fresh" mutations. However, only 3 variants (1 for serum albumin and 2 for red cell esterase) represented rare heterozygotes with codominant expression. This corresponds to the frequency of 0.59 X 10(-3). In the total population of newborns the proportion of infants with CM was 0.02, which means that the population mutation rate is 1.18 X 10(-5) per gene per generation. The data obtained support the conclusion about strong pressure of stabilizing selection against de novo mutations which change electrophoretic mobility of the protein molecule. The reasons for discrepancy between our data and the recent results of Neel and Mohrenweiser (1984) are discussed.

[Creation of a European bison sperm cryobank as a method for preserving the genetic polymorphism of the species]. / Sozdanie kriobanka spermy zubra kak sposob sokhraneniia geneticheskogo polimorfizma vida.

Sperm was taken from one alive (by electroejaculation) and two dead (from epididymis tissue) wisent males, and was conserved by the method similar to that used to freeze sperm from cattle. Spermatozoon mobility and acrosome conditions underwent no noticeable changes when kept under preservation. Eight cows were fertilized with the sperm which had been kept in liquid nitrogen for three years. Four of them had hybrid calves. We also made genetic analysis for bull-donors: on blood groups, isoenzyme systems and the protein spectrum of blood serum and muscle tissue. The analysis revealed the rare antigene H' in one of the bulls and polymorphism in two isoenzyme systems in the other one. The results of the analysis proved that these animals can make valuable contribution to the developing genetic cryobank.

[The identification of Leishmania isolates obtained from patients and dogs with visceral leishmaniasis in the Turkmen SSR]. / Identifikatsiia izoliatov leishmanii, vydelennykh ot bol'nykh vistseral'nym leishmaniozom liudei i sobak v Turkmenskoi SSR.

Using electrophoresis in polyacrylamide gel, 11 isolates have been detected by 8 enzymes (PGI, PGM, 6-PGD, MDG, G-6-PGD, ME, ALAT, ASAT) from patients with visceral leishmaniasis and dogs in the Turkmen SSR. The isolates were obtained from different areas of the republic varying in landscape and climatic conditions. The isolates were maintained by passages on golden hamsters. No long-lasting Leishmania culture has been obtained on the nutrition medium for any of the isolates. Parasite biomass was obtained by cultivation of spleen and liver suspensions on the nutrition medium. All the isolates were identified as Leishmania infantum, representing, however, independent zymodems. Isolates from human patients identified by PGI in the foci of the southeastern Kara Kum were distinct from those isolated from human patients in the foci of western Kopet-Dag. The isolates from 1-2-year-old children and an adult patient aged 31 in the same area were identical. The isolates from dogs were different from human ones in PGI and were not identical with Lem 78 marker isolated from dogs.

[The isoenzyme identification and pathogenic characteristics of the Leishmania isolated in natural foci of cutaneous leishmaniasis in the USSR]. / Izoénzimnaia identifikatsiia i patogennaia kharakteristika leishmanii, vydelennykh v prirodnykh ochagakh kozhnogo leishmanioza v SSSR.

By 8-11 enzymes, using polyacrylamide gel electrophoresis, 378 isolates from R. opimus, 3 isolates from M. libycus, 4 isolates from P. andrejevi, 1 isolate from P. papatasi, 1 isolate from S. murgabiensis and 25 isolates from human patients with skin leishmaniasis have been identified. Using starch gel electrophoresis, 17 strains from R. opimus and 3 strains from patients have been additionally identified by 12 enzymes. All the isolates were tested for ability to cause leishmaniasis disturbances in golden hamsters intracutaneously injected into the ear. It is established that L. major is a polytypic group which on the territory of the USSR consists of 3 independent species: L. major (in a narrower sense), L. gerbilli and L. sp. nov, a new earlier unknown species. All three types of Leishmania are specific parasites of R. opimus and only L. major may affect man and M. libycus. 3 types of Leishmania may coexist in the body of one animal. In R. opimus and golden hamsters, all of them caused only skin damages, visceralization was never registered. In golden hamsters, L. major always caused progressing ulcers, while L. sp. nov. and L. gerbilli caused only infiltrative damages. Only 9 (3%) of 268 L. sp. nov. isolates caused ulcers developing similar to those caused by L. major in the experimental animals. The data obtained account for the local nature and seasonal regularities of the epidemic process in the natural foci of skin leishmaniasis by the changing proportion of L. major in the complex of Leishmania encountered in R. opimus.

A new species of Leishmania isolated from the great gerbil Rhombomys opimus.

Leishmania turanica n.sp., found infecting the desert rodent Rhombomys opimus in the southern territories of the USSR and the Mongolian People's Republic, is described. This parasite exists sympatrically with L. major and L. gerbilli in R. opimus and is the predominant species. A total of 284 isolates of L. turanica from R. opimus, 3 from naturally infected Phlebotomus andrejevi and 1 from P. papatasi were characterized and found to be clearly distinguishable on isoenzyme and nuclear DNA characteristics from all other Old World taxa of Leishmania.