摘要:

Genetically determined structural variation in the gene products of various apolipoproteins plays a significant role in modulating lipid levels in the population at large. However, due to tedious and cumbersome experimental problems involved, the detailed characterization of this genetic variation has been limited. The recent development of simple and sensitive isoelectric focusing and immunoblotting methods has circumvented these technically associated problems to a large extent, and this has allowed us to expand the genetic data on various apolipoproteins to previously uncharacterized populations. We have reviewed here these isoelectric focusing and immunoblotting methods. A comprehensive listing of allele frequencies has also been given for the polymorphic apolipoproteins.

ISSN:0001-5652    

DOI:10.1159/000153931

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

926 women attending the Obstetrics and Gynaecology Department of the Faculty of Medicine, Khartoum, were investigated to study the inbreeding effects on reproductive profiles and morbidity of the offspring. 49.5% of the women had married their first cousins and 13.8% had married more distant relatives. Altogether, 4,471 pregnancy outcomes were analysed including abortions, still births, neonatal and childhood deaths, physical deformity, mental retardation and other congenital abnormalities. No significant difference in the reproductive loss or net fertility was observed between the inbred and outbred groups. Only the proportions of childhood deaths were found to be significantly higher in the inbred marriages (p < 0.005). The morbidity was also not affected by the practice of inbreeding.

ISSN:0001-5652    

DOI:10.1159/000153932

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

There is substantial evidence that some form of balancing selection is important for loci in the HLA region. Two classic studies found a large deficiency of homozygotes for these loci. Four possible proposed selective explanations were proposed: (1) heterozygous advantage; (2) linked lethal; (3) maternal-fetal interaction, and (4) resistance to infectious disease. These hypotheses as well as another explanation, different male and female gametic frequencies, have been examined here to try and evaluate their potential impact on genotypic frequencies. For any of these selective mechanisms to alone account for the observed homozygous deficiency, selection and/or others factors would have to be extremely strong. The linked lethal selection model and the hypothesis based on different male and female gametic frequencies appear to be unlikely explanations for these observations. Other factors that may influence genotypic frequencies are also discussed.

ISSN:0001-5652    

DOI:10.1159/000153933

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

A new polymorphic acidic proline-rich protein (As) was found in human parotid saliva by SDS and basic polyacrylamide gel electrophoresis. The phenotypic relationships and family studies support the hypothesis that the As protein is another allelic product of the PRH1 locus. The As protein could not be discriminated from the parotid isoelectric focusing (PIf) protein by isoelectric focusing gel electrophoresis due to similar migration of the two proteins. In order to determine salivary PRH1 phenotypes it is necessary to use SDS or basic gel electrophoresis in addition to the isoelectric focusing gel electrophoresis. The As protein was not found in Caucasians. The allele frequencies of the PRH1 locus in Japanese were PRH11 (double-band protein) = 0.035, PRHl2 (acidic protein) = 0.193, PRH14 (PIf) = 0.751, and PRH15 (As) = 0.021.

ISSN:0001-5652    

DOI:10.1159/000153934

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Evidence for a sex-linked determinant of immunoglobulin M levels was sought using correlational and commingling analyses in a sample of 174 randomly selected nuclear families. While mean IgM levels in females were approximately 25% higher than that in males, the pattern of familial correlations did not follow the expectations under a sex-linked model, and there was no commingling in the distribution of IgM levels as expected when a trait is under the influence of a major gene.

ISSN:0001-5652    

DOI:10.1159/000153935

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

A major risk factor for coronary heart disease in both men and women is elevated systolic blood pressure (SBP). We performed segregation analysis on age, sex-adjusted, and transformed systolic blood pressure data on 1,141 families from the Framingham cohort-offspring study using the segregation analysis program POINTER. The results of hypothesis testing revealed: (1) these data are consistent with familial transmission; (2) there is evidence for the transmission of a rare, major gene for low SBP with a gene frequency of q = 0.02; and (3) most of the transmissible component to SBP can be attributed to the polygenic background with H = 0.31.

ISSN:0001-5652    

DOI:10.1159/000153936

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Anti-Gerbich type anti-Ge3 antibodies were identified in the serum of a woman of mixed ethnic origin from Cape Town. The woman had type Ge:-2,-3 (Gerbich) red cells on which there was no evidence of weakened Kell antigens. Her red cells were also Dantu-positive.

ISSN:0001-5652    

DOI:10.1159/000153937

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

A family is reported in which the propositus was found to be sensitive to suxamethonium. Both parents were heterozygote each having genotype Ek1Ek1. The sibling of the propositus had the most common phenotype as defined by dibucaine, fluoride and RO2 numbers. Genetic analysis, however, indicated that this sibling must be an Ek1Ek1 homozygote.

ISSN:0001-5652    

DOI:10.1159/000153938

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Three different ethnic groups from Singapore comprising 79 Chinese, 34 Malays and 23 Indians of Dravidian origin, were investigated for the HindIII RFLP at the DNF15S2 locus. The three populations had very similar allele frequencies and the frequency of rarer(S) allele was significantly (p < 0.01) lower (0.21) in these ethnic groups compared to that in Caucasians (0.41). The phenotypic distributions were at Hardy-Weinberg equilibrium.

ISSN:0001-5652    

DOI:10.1159/000153939

出版商:S. Karger AG    

年代:1990

数据来源: Karger