摘要:

A large Hutterite kindred was examined for possible linkage between the chromosome 3 markers; cholinesterase (CHE1), transferrin (TF), and alpha-2HS glycoprotein (AHSG). Linkage between TF and AHSG was suggested in males (ẑ = 1.515, Θ = 0.08) and between CHE1 and TF(ẑ = 0.661, Θ = 0.21). However, linkage between CHE1 and AHSG in males was not established. Based on lods and a nuclear family informative for all three loci a possible chromosomal alignment for the loci is

ISSN:0001-5652    

DOI:10.1159/000153670

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

Plasma lipid and lipoprotein concentrations from 3,074 nuclear families in the multiethnic Jerusalem Lipid Research Clinic study population were analyzed for possible involvement of major genes in determination of high levels of these traits. Complex segregation analysis under a mixed model including major gene and multifactorial transmissible components was performed on transformed-plasma lipids and lipo-proteins after covariance adjustment for age, sex and environmental measures. Likelihood analysis provided evidence for recessive major genes influencing plasma triglyceride, and low-density lipoprotein cholesterol (LDL-C). The estimated gene frequencies for triglyceride and for hyperbetalipoproteinemia in our study population were about 0.1. Our positive results for total cholesterol and high-density lipoprotein cholesterol (HDL-C) were nonconclusive and the major effects could result from causes other than major genes. The mixed-model parameters were homogeneous across origin groups for LDL-C and HDL-C and heterogeneous for total plasma cholesterol and triglyceride. The multifactorial-transmission heritability index was similar in all origin groups for all the traits. The origin heterogeneity in the major gene parameters appeared to be mainly due to the North African group which favored a multifactorial transmission for all traits except for LDL-C.

ISSN:0001-5652    

DOI:10.1159/000153671

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

The genetic polymorphism of transferrin (TF) was studied in 2,167 Japanese individuals and in 448 New Zealanders. The three TF C subtypes were identified, but TF C3 was absent from Japanese populations. In addition, three TF B and six TF D variants were observed, each of which occurred either in Japanese or in New Zealanders. Stepwise removal of N-acetyl-neuraminic acid (NANA) with neuraminidase revealed that the most cathodal variant TFDshinnanyo found in a Japanese family was characterized by having only two NANA residues.

ISSN:0001-5652    

DOI:10.1159/000153672

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

During a paternity test performed in Porto Alegre, Brazil, a rare variant of superoxide dismutase, probably SOD A2 was found in a Caucasian child and the putative father. Studies of 1,700 unrelated white individuals from the same and nearby cities had never disclosed such a variant, which was also absent in 2,480 persons of other ethnic groups living in different regions of Brazil. The presence of this rare phenotype in the child and putative father led to the assignment of a very high probability of paternity to the latter.

ISSN:0001-5652    

DOI:10.1159/000153673

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

This article is part of a series of studies on the opportunity for selection in Swedish populations. The study concerns women who, with some exceptions, were born during the first half of the 19th century. A modified form of Crow’s index has been used to estimate the upper limit of natural selection. The average index for the period 1805-1850 was I = 1.136, which value falls within the limits of what has been found for the other Swedish populations that have been studie

ISSN:0001-5652    

DOI:10.1159/000153674

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

A case of familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism is described in two 46, XY female sibs. Biochemical and histologic evidence for such diagnosis is presented.

ISSN:0001-5652    

DOI:10.1159/000153675

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

Although analytical procedures for multiple marker risk estimation are now well established, we still lack a unified optimal procedure for deciding which family members to examine and which markers to use. Towards this goal, the application of conditional risk distributions is developed, along with a suggested statistic for judging the utility of a marker. The conditional risk distribution depends on what knowledge has already been obtained about the pedigree, and indicates the expected outcome of risk estimates after another marker is examined. Population genetic aspects including haplotype frequencies, linkage disequilibrium, family size and pedigree structure and the statistical confidence in the linkage map all influence the optimal strategy for multiple marker risk estimation.

ISSN:0001-5652    

DOI:10.1159/000153676

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

Unusual inhibition characteristics in two unrelated suxamethonium-sensitive individuals were indicative of a new allele, Eh1, segregating with the Ea1gene. Family studies substantiate this hypothesis and three new genotypes are recognised.

ISSN:0001-5652    

DOI:10.1159/000153677

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

In a sample of 903 Finns no association between Hp and GLOI phenotypes could be detected.

ISSN:0001-5652    

DOI:10.1159/000153678

出版商:S. Karger AG    

年代:1987

数据来源: Karger

摘要:

PAGIF was used to investigate the distribution of Gc and Tf subtypes in a Greek population sample. The gene frequencies were compared to those reported for other European populations.

ISSN:0001-5652    

DOI:10.1159/000153679

出版商:S. Karger AG    

年代:1987

数据来源: Karger