[Rare variants of alpha 1-antitrypsin in families having neonates with deformities].

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.

[Population genetics study of differential fertility in humans (based on an example of habitual abortion). II. Distribution of genotypes and heterozygosity levels for a variety of biochemical markers].

Hereditary variation of 21 blood proteins coded by 22 monomorphic and 9 polymorphic loci was compared in 171 couples and 120 women with repeated spontaneous abortions in anamnesis (experimental group) and 183 couples with normal fertility (control group). Significant elevation of frequency of rare protein electrophoretic variants, marked deviation in distribution of genotypes for polymorphic loci, alteration in observed heterozygosity level were not found in experimental group. Statistically significant decrease in average value of D index (D = (hobs-hexp)/hexp; hobs, hexp--observed and expected heterozygosity per locus) was found in women of experimental group.

[Genetic polymorphism and rare variants of alpha 1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel].

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.