摘要:

The purpose of this work was to examine the influence of apolipoprotein gene variation on plasma lipid levels in a population of Mayan Indians of the Yucatan Peninsula, Mexico. Four restriction enzymes: XmnI, PstI, SstI, and PvuII, were used to detect restriction fragment length polymorphisms (RFLP) within the region of the apolipoprotein AI/CIII/AIV gene cluster. The frequencies of these polymorphisms in this Mayan population were similar to those reported for other Amerindian populations, but differed widely from those reported for Caucasian populations. The XmnI and SstI RFLPs were informative for association studies in this population, and we analyzed their influence on the quantitative variation of plasma cholesterol and triglycerides. Using a nonparametric analysis of variance, it is shown that the presence of the XmnI restriction site had a significant effect in lowering plasma cholesterol, whereas the presence of the restriction site for SstI had a significant effect in raising plasma triglycerides. Consequently, genetic indicators of both low and high risk for lipid-related diseases, such as atherosclerosis and coronary heart disease, seem to be present within the same gene region in this Mayan population.

ISSN:0001-5652    

DOI:10.1159/000154014

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The nonsecretor gene se is absent (or very rare) among Chinese in Taiwan and the previously reported Le(a+b–) phenotype in this population is in fact Le(a+b+) as proven by the presence of small amounts of Leb antigen on red blood cells. Salivary ABH substances in this phenotype are usually (although not always) markedly reduced. The Chinese Le(a+b+) phenotype is postulated to be the result of a weak secretor gene Seω. Although the Le(a+b+) phenotype is very rare in Caucasians, it has a frequency of 25% in Chinese. All Le(a–b–) Chinese are ABH secretors and have varying amounts of Lea and/or Leb substances in

ISSN:0001-5652    

DOI:10.1159/000154015

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Following the detection of apparent exclusions in the Rh system in two Coloured (mixed race) families during paternity testing, a rare D– – gene complex was identified in one family and two examples of an unusual gene complex producing weak e and very weak or non-demonstrable f antigen in the other. The latter, which almost certainly belong to the heterogeneous collection known as Dc–, were found when the Rh phenotypes expected to give f+, instead gave f– or f+W (weak positive) results and those expected to give f–, gave f+W results. Blood group phenotype and gene frequency studies showed that the Natal Coloured population contains a mixture of approximately 40% Black, 30% White and 30% Indian (Asian) genes. The phenotypes A⇓ high H, B high H, B low H, K+ and Kp(a+) associated with Caucasoids and the phenotypes Abantu, Dan-tu+, hrs– (Rh: –18,–19), hrB– (Rh: –31,–34) and Fy(a–b–) associated with Negroids were all represented. The DCe/Dc– frequency was 6.9% and the

ISSN:0001-5652    

DOI:10.1159/000154016

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The genetic polymorphism of α-2-HS-glycoprotein (AHSG) was analyzed in 489 unrelated individuals living in Madrid (central Spain), by isoelectric focusing in miniaturized polyacrylamide gels followed by immunoblotting. The allele frequencies were estimated to be 0.7147 and 0.2771 for AHSG*1 and AHSG*2, respectively. In addition to the common alleles, 3 rare variants (AHSG*3, AHSG*10 and AHSG*11) have been found in this study

ISSN:0001-5652    

DOI:10.1159/000154017

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Allele frequencies at the phosphoglucomutase-1 (PGM1) locus have been investigated in two Croatian (Yugoslavian) populations from neighboring islands, Silba and Olib. The genotype distributions are significantly different though the two islands are only 2 km apart. In the light of demographic and historical data, a few hypotheses explaining these results are discussed. A rare variant, PGM1*W3, usually found in Asia, is present in 4 inhabitants from the Olib island.

ISSN:0001-5652    

DOI:10.1159/000154018

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

In linkage analysis a single-child family is usually considered to be completely uninformative. This article shows that such a family can provide information on linkage disequilibrium, even if it provides no information on linkage equilibrium. A transition matrix consisting of the recombination fraction and the phase proportion is proposed to study the genetic transmission from a pair of parents to their single child. The information about linkage for a single-child family is shown to be confounded by the phase proportion. This explains why such a family used to be considered uninformative under the assumption of linkage equilibrium. By reparametrizing the recombination fraction and the phase proportion into one parameter, it is demonstrated that extracting information on linkage disequilibrium is feasible. The study of power of the testing method proposed here is carried out by simulation.

ISSN:0001-5652    

DOI:10.1159/000154019

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The gene and haplotype frequencies of the HLA-A and -B locus antigens were determined in 502 unrelated individuals from Cantabria (middle North Spain). Our results were compared with those reported for other European and Spanish populations. The haplotypes with significant linkage disequilibrium were also analyzed in various Spanish population samples in order to establish possible relationships with geographic situation and historical events.

ISSN:0001-5652    

DOI:10.1159/000154020

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The relationship between the CHE2 locus of serum cholinesterase (BChE) and adult human weight was studied in a sample of 225 CHE2 C5+ individuals and 225 CHE2 C5- controls matched for sex, height, age and race. With respect to the intensity of the C5 band staining (scored 1–6), 113 individuals had faint C5 bands (scores 1–3) and 112 intense C5 bands (scores 4–6). The individuals with intense CHE2 C5+ phenotype showed a significantly lower mean adult weight (64.66 ± 0.73 kg) when compared to their controls (70.59 ± 0.97 kg) and a significant reduction in weight variance (59.81 and 105.18, respectively). Individuals with faint C5 bands, although showing a negative correlation between weight and C5 band intensity, did not differ from their controls in mean

ISSN:0001-5652    

DOI:10.1159/000154021

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Alpha-1-antitrypsin (PI) phenotypes were studied in a sample of more than 5,000 individuals from cities throughout France. Special interest was paid to the PI*Z allele whose average frequency, based on the present work plus results from the literature, was 0.0130. This figure was used to estimate the number of PI Z homozygotes in France. In accordance wtih previous studies, the frequency of the PI*S allele was found to increase towards the southern parts of France.

ISSN:0001-5652    

DOI:10.1159/000154022

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

An analysis of haptoglobin (HP) phenotypes in 81 cases of diabetes mellitus (DM) without retinopathy and 122 cases with diabetic retinopathy (DR) were studied in relation to 180 normal and healthy controls matched for age and sex. A significant decrease in HP 2–1 frequency was found, suggesting protection for heterozygotes in both DM and DR (with a relative risk of about 0.31). As an acute-phase reactant HP may be functionally involved in the etiology of DM and DR, which are associated with immunologic and inflammatory processes, respectively. No significant differences were found with respect to sex, age at onset, duration of DR, types of DM and DR, and family histor

ISSN:0001-5652    

DOI:10.1159/000154023

出版商:S. Karger AG    

年代:1991

数据来源: Karger