摘要:

Polyacrylamide gel isoelectric focusing (PAGIEF) of EDTA plasma and neuraminidase-treated plasma samples at pH 3.5–9.5 containing 8.0 Murea followed by an electroblotting with enzyme immunoassay was applied for the detection of factor H (HF) phenotypes in 536 unrelated Japanese blood donors living in Tokyo. In the major cathodal components, phenotypes of HF were classified into three common and five rare patterns, and these were considered to be controlled by two common and two rare alleles. The data suggest that the HF*Q0 allele also exists in the Japanese population. Family studies confirm the hypothesis that the HF polymorphism is controlled by autosomal codominant Mendelian inheritanc

ISSN:0001-5652    

DOI:10.1159/000153918

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Apolipoprotein C-III (APO C-III) is a structural component of very-low-density and high-density lipoprotein particles and is an inhibitor of lipoprotein lipase. In a study of genetic variation of apolipoproteins in the Mayan population of the Yucatan peninsula, we observed a quantitative polymorphism in APO C-III levels. This polymorphism is expressed as variation in immunoblot staining intensity following isoelec-tric focusing and as variation in plasma levels of APO C-III determined by radial immunodiffusion. This variation is consistent with the presence in Mayans of an allele associated with low levels of plasma APO C-III which we have designated APO C-III*D. Analysis of the distribution of APO C-III levels yields a gene frequency estimate for the deficiency allele of 0.59. There is a significant positive correlation between total plasma APO C-III levels and total plasma cholesterol and triglyceride levels, the lowest levels of cholesterol and triglycerides being seen in individuals homozygous for the deficiency allele. This observation is consistent with the proposed role of APO C-III in lipoprotein metabolism. Family data to determine whether this deficiency allele is due to mutation at the APO C-III structural locus were not available. However, molecular analysis using cloned probes from the APO A-I/C-III/A-IV gene cluster revealed no gross DNA rearrangement or deletion of sequences in this region in homozygous deficient individuals.

ISSN:0001-5652    

DOI:10.1159/000153919

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Genetic variants of red-cell acid phosphatase (ACP1, esterase D (ESD), transferrin (TF) and the group-specific component (GC) were investigated in schizophrenic patients with and without a family history of both schizophrenia and other psychiatric disorders. No evident association was found with respect to ACP1 TF and GC systems. A significant difference in the frequency of ESD heterozygotes was found between patients with and without a family history of schizophrenia.

ISSN:0001-5652    

DOI:10.1159/000153920

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

A series of Chinese newborns of consecutive normal vaginal deliveries were investigated for the distribution of serum transferrin subtypes by polyacrylamide gel iso-electric focusing at pH 3.5–9.5. Newborns whose mothers had a history of previous spontaneous abortion (n = 189) had a significantly higher frequency of the C2 variant and the C2 gene compared to those (n = 864) without a history of spontaneous abortion. There was no significant difference in the frequency of transferrin alleles between newborns with normal and low birth weight (n = 147

ISSN:0001-5652    

DOI:10.1159/000153921

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Two flow-sorted chromosome 22 libraries were used to isolate DNA sequences specific for chromosome 22. 45-phage DNAs were probed against human genomic DNA. 12 of them showed unique or low-copy character. Using digested DNA from rodent-human hybrid cell lines, 3 of the 12 recombinants were assigned unique to chromosome 22 and regionally mapped. 1 clone mapped to 22pter-q11, 1 clone to 22q12-qter and 1 clone, for which in situ hybridization was performed, to 22q13.1. 2 low-copy probes, 1 of them displaying polymorphisms in Mspl and TaqI digests of individual DNAs, must have similar sequences on 22 and additional chromosomes. Furthermore, a highly repetitive DNA representing a compound locus of some hundred kilobases on chromosome 22 was isolated. These 6 probes may provide useful tools for studying the structure and function of this small chromosome involved in a relatively high number of inherited and acquired diseases.

ISSN:0001-5652    

DOI:10.1159/000153922

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Rocket immuno-electrophoresis and enzyme-linked immunosorbent assays were used to estimate the amount of cholinesterase present in 29 apparent silent homozygotes. 26 of these samples were segregated into four groups representing zero, very low, low and high levels of immunoreactive protein. These groups may represent the genotypes Es1, Es1, Es1, Et1, &Egr;t1, Et1 and a new genotype Ex1, Ex1, respectively. The possible genotypes of the remaining 3 individuals are discussed.

ISSN:0001-5652    

DOI:10.1159/000153923

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

A bivariate segregation analysis of genetic hemochromatosis with serum ferritin concentration was undertaken to examine the pleiotropic effect of the hemochromatosis locus on each of the two phenotypes, in an ascertained sample of families from Brittany, France. The gene was recessive with respect to both phenotypes, and the estimated gene frequency in the general population was 0.054. Although the ferritin concentration was corrected for the linear relationship with age among controls, there was a residual correlation with age among male family members, consistent with the progressive increase in body iron stores among hemochromatosis homozygotes. This genotype-specific relationship with age illustrates the importance of incorporating interaction effects into analytic models, and suggests that even as a better indicator of progress of disease, rather than liability to disease, serum ferritin concentration serves well to distinguish hemochromatosis homozygotes from alternate genotypes in a family study.

ISSN:0001-5652    

DOI:10.1159/000153924

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

In the Henan province, China, the segregation ratio of Duchenne muscular dystrophy, estimated through classical segregation analysis on 103 sibships, is p = 0.462, and the maximum likelihood proportion of sporadic cases is x = 0.264. These figures are in agreement with the results of segregation analysis on 1,800 families from different countries; also, the Henan population shows a slight segregation distortion and lacks a fraction of the sporadic cases predicted under mutation-selection equilibrium. Although not statistically significant, the downward departure of the estimated parameters from their expectations under the mendelian equilibrium hypothesis (p = 0.5; x = 0.333) confirms an anomalous segregation pattern for Duchenne muscular dystrophy. A possible role of germinal mosaicism in concealing a fraction of sporadic cases is discussed.

ISSN:0001-5652    

DOI:10.1159/000153925

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The frequencies of GC phenotypes in 104 patients with chronic obstructive airways disease (COAD) were compared with those in 413 control subjects. The distributions were significantly different with fewer patients with the GC 2 allele than expected (relative risks = 0.8, 0.7 and 0.5 for 2–2, 2-1S and 2-1F, respectively) and more 1F-1F patients than expected (relative risk = 4.8). These data suggest that the GC 2 allele exerts a protective effect, whereas 1F, when homozygous, increases the risk of developing COA

ISSN:0001-5652    

DOI:10.1159/000153926

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The βs-globin gene haplotypes were investigated using restriction endonucleases Hinc II and Hind III in 22 sickle cell anaemia patients from the eastern province, 67 sickle cell anaemia patients from the south-western province and 4 sickle cellanaemia patients from north-western province. The βs was found to be mainly linked tothe haplotype + – + in the eastern province (50% homozygous and 45.45 % heterozygous), and – – – – + haplotypes in the south-western (44.77% homozygous and 43.28% heterozygous) and north-western (100% homozygous) provinces. A comparison of the haematological values and clinical manifestations in patients with the two major haplotypes revealed significant differences, with the disease presenting more severely in the south-western compared to the eastern population. The level of Hb F was not significantly different in the two groups and no association could be demonstrated between the β-globin gene haplotype and Hb F level. These results have led us to suggest that the haplotype + + – ++ is in some way linked to a benign sickle cell anaemia, though the exact mechanism leading to a benign diseas

ISSN:0001-5652    

DOI:10.1159/000153927

出版商:S. Karger AG    

年代:1990

数据来源: Karger