摘要:

In the course of a population study in Italy, blood samples collected from 802 unrelated newborns and both their parents (when possible) have been examined for galactose-1-phosphate uridyltransferase (GALT) polymorphism. Electrophoresis and quantitative assay of GALT activity were not always sufficient for an accurate identification of the different GALT genotypes; segregation analysis provided better criteria for classification. A parent-child correlation coefficient for GALT activity equal to 0.107–0.155 was found when only the transmission of the normal allele was concerned, but the correlation rose to 0.618–0.682 when the Duarte and Los Angeles alleles were segregating. This confirmed the existence of a low (Duarte) and high (Los Angeles) activity variant. The overall validity of our genotype classification is supported by the good agreement between observed and expected mating types and segregations. The following gene frequencies were found for the different alleles: N = 0.9192, G = 0.0036, D = 0.0372 and LA = 0.0400.

ISSN:0001-5652    

DOI:10.1159/000153463

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Variations at the PGM1, GOTm, GOTs, and EsD loci were studied in placental samples from Northern Greece. The gene frequencies of GOTm and GOTs were found to be comparable with frequencies reported in other Caucasian populations. The frequencies of the EsD1 and PGMa11 alleles, however, were lower in Northern Greece than in other European populations.

ISSN:0001-5652    

DOI:10.1159/000153464

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Salivary protein polymorphism was studied in 200 schoolboys, mainly Ki-sii and Luo from Kenya, East Africa. The frequencies of PR, PA, DB, PB and AMY1 genes were as follows: PR*1: 0.66, PA*(+): 0.18, DB*(+): 0.55, PB*2: 0.12, AMY1*A2:0.008, AMY1*E: 0.03. These frequencies were compared with other population data, in particular from West African and US Negroes. The most interesting finding with respect to the gene frequencies is the low PB*2 frequency and the absence of AMY1*3 in Kenya. Furthermore, a new phenotype in the AMY1 system was described which suggests the presence of an allele with an estimated frequency of 0.02.

ISSN:0001-5652    

DOI:10.1159/000153465

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Two hair histological variables, the incidence of medullation and diameter, have been dealt with in twelve populations belonging to different ethnic groups and living in different geographical areas. Results of the F test comparing within-individual variance, between-individual variance and between-population variance of the hair variables concerned indicate that differentiation of various populations is possible. Sex differences for medulla and diameter of hair are observed in some populations included in the present study.

ISSN:0001-5652    

DOI:10.1159/000153466

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Genetic polymorphism of red cell enzymes glutamate-pyruvate transaminase (GPT) and glyoxalase I (GLO) was investigated in five villages of the Colombian Andes. The GPT1 and GLO1 gene frequencies show a considerable range, but compatible to the range of European populations. In both the systems there is slight excess of observed homozygosity suggesting that the infrastructure of the subpopulations may be influenced by inbreeding.

ISSN:0001-5652    

DOI:10.1159/000153467

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Isolated Factor V deficiency is a very rare inherited coagulopathy. A genealogy of Brazilian Caucasians, where this disorder occurs, is reported. In this family, which was located because 2 affected individuals having the same surname were found by chance, the genealogical and laboratory data suggest an autosomal recessive pattern of inheritance. Nevertheless, the existence of deceased individuals who were reported as symptomatic seems to imply that some heterozygotes may present occasional bleeding episodes.

ISSN:0001-5652    

DOI:10.1159/000153468

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

The diallelic enzyme α-L-fucosidase has been found to be highly active in semen. Eight distinct enzyme bands were observed in each homozygote and the heterozygote consisted of a combination of bands. The isoelectric points ranged between pI 4.34 and 6.65. Activity was found to be much lower in vaginal fluid, not more than three cathodal bands were visible in any sample examined. In leucocytes, 5 bands were detected in homozygotes whilst in serum only two faint anodal bands could be detected. Activity was low in vaginal fluid and could not be detected in urine or saliva. Population studies were carried out on semen samples from Oxford and Basingstoke and on lymphocyte samples from Oxford. The data were in agreement with Hardy-Weinburg equilibrium. The common allele (Fu 1) had a frequency of 0.704 in Oxford semen samples

ISSN:0001-5652    

DOI:10.1159/000153469

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

A significant correlation was found between the frequency of chromosomally aberrant peripheral lymphocytes and a low frequency of morphologically normal spermatozoas in men. No correlation was found between increased chromosomal breakage, other sperm parameters and density, motility or agglutination of spermatozoa. Smokers had significantly more cells with aberrations than nonsmokers. The significance of induced lesions in peripheral lymphocytes and their relationship to reproduction was discussed.

ISSN:0001-5652    

DOI:10.1159/000153470

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

A series of 222 individuals from the northeastern provinces of Thailand were studied with respect to acetylator phenotypes. Among individuals of pure Thai descent 55.5% were rapid acetylators. The corresponding figure for Chinese was 66.0%. There were no significant differences between Thais and Chinese. The result shows a lower frequency of rapid acetylators in Thais than in previous reports on Thais.

ISSN:0001-5652    

DOI:10.1159/000153471

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Seven tribal (Konda Kammara – 2 samples; Koya Dora – 3 samples; Lambadi) and caste (Madiga) populations from Andhra Pradesh (South India) have been analyzed for the distribution of Gc subtypes. The observed heterogeneity in the distribution of Gc1F, Gc1S and Gc2 alleles was found to be statistically significant. Comparisons are made with North Indian populations as well as with those of other racial affiliation. The anthropological impact of the Gc subtype polymorphism is discus

ISSN:0001-5652    

DOI:10.1159/000153472

出版商:S. Karger AG    

年代:1984

数据来源: Karger