Distribution of acetylator phenotypes in the Moscow population

The data concerning distribution of acetylator phenotypes in Moscow city population are presented. 169 adults (96 women and 73 men) were tested by the Evans' method. The percentages of rapid and slow acetylators were 48 and 52%, respectively.     

Distribution of human adult lactase phenotypes in the population of Austria

Summary A total of 528 unrelated, apparently healthy, adult and adolescent Austrians (270 females, 258 males, mean age 22.1 years) were examined for lactose absorption capacity employing a noninvasive field test based on breath hydrogen (H₂) determination. Subjects exhibiting a change of breath hydrogen concentration of less than 15 volumes per million (vpm) after a load of 50 g lactose (n=422) were classified as lactorse absorbers, 106 probands (20.1%) showing increases of breath hydrogen concentration between 16 and 111 vpm were diagnosed as lactose malabsorbers. The distribution of the lactase phenotypes was independent of age and sex. Intolerance symptoms after lactose administration were significantly more frequent in lactose malabsorbers. Grouping of probands according to the birth-places of their grandparents revealed significant differences in the distribution of the lactase phenotypes in East and West Austria (East 25%, West 15% lactose malabsorbers). These differences are discussed in the light of the population history of these regions.     

Population frequency of neural tube defects in the population of the city of Moscow]

A sample investigation was carried out in 14 maternity homes of Moscow during 1970--1976 in order to determine the population incidence of defects of the neural tibe. Among 282336 newborns 220 probands with these anomalies were found including 11 with syndromes of non-multifactorial etiology. The total incidence of multifactorial forms was 0.74 +/- 0.10 per 1000 newborns, the incidence of the anencephaly was 0.33 +/- 0.07% and the frequency of the spina bifida was 0.41 +/- 0.07% respectively. The sex ratio 0.61 among probands was statistically significantly different from that normal among newborns. An insignificant increase of the incidence of the defects was observed during the autumn and winter seasons. No correlation was observed between the mother's age, the birth order and the incidence of the neural tube defects.     

Distribution of ABO and Rhesus phenotypes and genes in the population of Kursk region

The distributions of AB0 and Rhesus phenotypes and the corresponding genes in the population of Kursk oblast were studied. Based on these data, genetic differentiation of rural populations with respect to the d gene frequency was revealed. The differentiation was determined by the differences in the genetic and demographic structure of these rural populations. The frequency of homozygotes for the recessive gene d and the incidence of malformations affecting the children's viability increased with an increase in the inbreeding level of a population. Genetic distances between the population of Kursk oblast and other populations were estimated.     

Correlation between acetylator phenotypes and genotypes of polymorphic arylamine N-acetyltransferase in human liver

Southern blot analysis was performed with genomic DNAs from 86 human subjects using the 32P-labeled cDNA for polymorphic arylamine N-acetyltransferase (EC 2.3.1.5) in human liver recently cloned in our laboratory. Three types of N-acetyltransferase gene were identified. Gene 1 contains a 5.5-kilobase (kb) KpnI fragment with a BamHI site; gene 2 contains a 5.5-kb KpnI fragment without a BamHI site; and gene 3 contains a 5.0-kb KpnI fragment with a BamHI site. The combination of these three genes generated five genotypes. Acetylator phenotypes were determined in 29 healthy volunteers by isoniazid loading tests, and they were classified as rapid (10 subjects), intermediate (16 subjects), or slow (3 subjects) acetylators. Rapid acetylators were homozygotes of gene 1. Intermediate acetylators were heterozygotes of either genes 1 and 2 or genes 1 and 3. There were two exceptional cases who were classified as intermediate acetylators but were homozygotes of gene 1. Slow acetylators were either heterozygote of genes 2 and 3 or homozygotes of gene 3. These results indicate that gene 1 corresponds to high N-acetyltransferase activity, while gene 2 and gene 3 give rise to low N-acetyltransferase activity.     

Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups

Summary The ₁-antitrypsin phenotypes of two Dutch population groups (consisting of 672 and 802 individuals) were determined by the isoelectric focusing technique, which due to its recent development, has been used for the first time in large-scale phenotyping.As in other population studies on the ₁-antitrypsin phenotype distribution, Pi M is the most frequently occurring allele. The two investigated groups exhibit remarkable differences, both to other studied groups as well as to each other. The most interesting results are probably the high frequencies of the alleles Pi- and of the recently discovered Pi M_N. Comparison with phenotype studies carried out in other populations is also presented.     

Conjugated and unconjugated plasma oestrogens in men with chronic alcoholism and in normal men

The plasma concentrations for unconjugated and conjugated oestrone, oestradiol-17β and oestriol, were measured in 25 male patients with chronic alcoholism and 25 healthy male blood donors of the same age. All persons had normal weight and were free of medication. The patients with chronic alcoholism consisted of 15 persons with and 10 without hepatomegaly. Liver biopsy was performed in the persons with hepatomegaly. Unconjugated oestrogens were separated on LH-20 micro columns after extraction with diethyl ether. Oestrogen sulphates were extracted and separated after hydrolysis with sulphatase, and glucuronides were extracted and separated after hydrolysis with glucuronidase.In the patients with hepatomegaly the plasma concentrations of unconjugated oestrone, oestradiol-17β and oestriol were significantly increased, and the plasma levels for the same oestrogen sulphates were significantly decreased, whereas a moderate increase was observed for oestriol glucuronide. The patients without hepatomegaly revealed a significantly lower plasma concentration for oestrone sulphate, whereas no difference was seen for the remaining oestrogen components. The ratio oestrone sulphate to oestrone was significantly reduced in both groups of patients. A significant decrease for the ratio oestradiol sulphate to oestradiol and oestriol sulphate to oestriol was seen only in the patients with hepatomegaly.     

Multivariate linkage analysis using the electrophysiological phenotypes in the COGA alcoholism data

Multivariate linkage analysis using several correlated traits may provide greater statistical power to detect susceptibility genes in loci whose effects are too small to be detected in univariate analysis. In this analysis, we apply a new approach and perform a linkage analysis of several electrophysiological phenotypes of the Collaborative Study on the Genetics of Alcoholism data of the Genetic Analysis Workshop 14. Our approach is based on a variance-component model to map candidate genes using repeated or longitudinal measurements. It can take into account covariate effects and time-dependent genetic effects in general pedigree data. We compare our results with the ones obtained by SOLAR using single measurement data. Our multivariate linkage analysis found linkage evidence on two regions on chromosome 4: around marker GABRB1 at 51.4 cM and marker FABP2 at 116.8 cM (unadjusted p-value = 0.00006).     

Complex medico-genetic study of the population of western Siberia. III. Distribution of phenotypes and gene frequencies in the northern Khanty population

Distribution of phenotypes and gene frequencies for 5 polymorphic loci as well as frequencies of incidence of some anthroposcopic parameters in five subpopulations of the North Khanty population is presented. A comparative analysis was performed for the traits studied among the people of Finno-Ugric group and of North Asia. Wahlund's variance values point to significant subdivision of the population in question. Disruption of the Hardy-Weinberg equilibrium for haptoglobin locus was observed in two subpopulations. Estimates of inbreeding coefficients obtained by different ways (from gene frequencies, genealogy and isonymy) are compared.     

Distribution of common phenotypes of sperm diaphorase (DIA3) in the Polish population.

The polymorphism of sperm diaphorase (DIA3) was investigated by isoelectric focusing in semen samples from 310 unrelated Polish males. The allele frequencies were DIA3*1 = 0.782, DIA3*2 = 0.200 and DIA3*3 = 0.018.     

Distribution of adenylate kinase and phosphoglucomutase isoenzymes in the population of the city of New York.

Blood samples from unrelated persons living in New York, N.Y., were examined for phosphoglucomutase (PGM) and adenylate kinase (AK) phenotypes, the sample consisting of 164 Caucasians, 133 Negroes, 129 persons of Spanish origin or descent, and 156 Chinese for PGM and 136 Caucasians, 134 Negroes, 136 persons of Spanish origin or descent, and 156 Chinese for AK. The PGM1 gene frequency was found to be 0.7774 for Caucasians, 0.8083 for Negroes, 0.7461 for Hispanic persons, and 0.7917 for Chinese. One Hispanic person had a very rare type, PGM 8-1-FAST. The AK1 gene frequency was found to be 0.9669 for Caucasians, 0.9813 for Negroes, 0.9779 for Hispanic persons, and 1.000 for Chinese.     

N-Acetyltransferase phenotypes in Iraqi and British population

The paper reports the N-acetyltransferase results from three population groups and discusses some of the reasons for the current interest in this system as well as the implication for some of the observed geographical differences.     

New Stenolaematous bryozoans from the Jurassic of central European Russia (Moscow city and the Moscow and Kostroma Regions)

New bryozoans from the Middle Callovian (Middle Jurassic) of Moscow city (Reptomulticava pileola sp. nov.) and the Moscow Region (Spirodella radiolobata gen. et sp. nov.) and from the Middle Oxfordian (Upper Jurassic) of the Kostroma Region (Hyporosopora mittai sp. nov.) are described. All three bryozoans belong to the class Stenolaemata. Some features of their colonial organization and environmental conditions are discussed.