摘要:

Genetic variation at the phosphoglucomutase-1 (PGM) and acid phosphatase (ACP) loci, in 160 and 120 European and Asian populations, respectively, is described by spatial autocorrelation statistics and directional variograms. Short-distance patterns of gene frequencies correspond to those predicted by models of isolation by distance, but long-range differentiation of populations is observed as well. A possible role of climatic selection in maintaining the PGM polymorphism is supported by the north-south orientation of the gradient for that locus, but not by biochemical evidence. By and large, the observed patterns of gene frequencies seem to reflect a combination of demographic processes, subdivision and isolation of local populations among them.

ISSN:0001-5652    

DOI:10.1159/000153954

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Examples were discussed where heterozygosity was associated with increased or decreased disease risks and where the apparent mechanism is direct functional involvement of gene products and not linkage disequilibrium. Special attention was paid to the impact of Hp (haptoglobin) heterozygosity on a number of different multifactorial disorders. When phenotype distributions in patients show large deviations from the Hardy-Weinberg equilibrium significant differences between patients and controls may be found concerning phenotype distributions but not with respect to the frequencies of alleles and phenotypic factors. The common method of studying ratios of phenotypic factors by pooling homo- and heterozygotes is in principle a conservative approach which tends to underestimate the strength of associations and to obscure heterozygosity effects. A significant deviation from the Hardy-Weinberg equilibrium in a marker system examined in a group of patients is in itself a sensitive indicator of phenotypic association with the disease in question.

ISSN:0001-5652    

DOI:10.1159/000153955

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The genetic variation of orosomucoid (ORM1 and ORM2) in three southwestern European populations (Galicia, Spanish Basque Country and northern Portugal) was investigated using hybrid isoelectric focusing. Three common ORM1 alleles were observed in these populations, the frequencies of ORM1*S observed in Galicia and northern Portugal being the highest found among populations of European origin. Rare variants were observed for both the ORM1 and ORM2 loci.

ISSN:0001-5652    

DOI:10.1159/000153956

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Transferrin (TF) C subtypes were studied in Swedish Lapps (Saami) and in Swedes from northern, central and southern Sweden, and the allele frequencies were compared with those in other European populations. The Swedish Lapps were found to have the lowest frequency of the TF*C3 allele (1–2%) so far observed in Europe. Most European populations have TF*C3 allele frequencies between 5 and 7%. Finns differ by having high TF*C3 frequencies (13–14%). The relatively high TF*C3 frequencies found in northeastern Sweden (13%) and in central Sweden (9%) are most likely due to eastern influence. Unlike other genetic markers of eastern influence (e.g. TF*DCHI), which are of Asiatic Mongoloid origin, TF*C3 appears to originate from Finno-Ugric populati

ISSN:0001-5652    

DOI:10.1159/000153957

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

To gain insight into the variable expression of lung disease in α1-antitrypsin deficiency, two pulmonary function tests, FEV1 and FEF25_75, were examined in α1-anti-trypsin-deficient individuals and their families. The mean and variance effects of Pi type, age, and sex on the pulmonary function variables were removed by stepwise multiple regression, and the residual phenotypes were analyzed. Path analysis of the residual phenotypes with environmental indices in 46 nuclear families demonstrated higly significant cultural inheritance. Significant polygenic inheritance was not demonstrated for FEV1 but was shown for FEF25–75. For FEV1, adjustment for the significant interaction between Pi type and pack-years of smoking tended to increase the estimated contribution of polygenic inheritance and to decrease the estimated contribution of cultural inheritance. Segregation analysis of the residual phenotypes in 44 nuclear families was carried out to determine whether another major gene, other than the Pi locus, may be influencing pulmonary function in this population. Statistical evidence was found for an additional major gene influencing FEV1; however, the evidence diminished after adjusting for the effects of pack-years and the interaction between Pi type and pack-years. This apparent drop in the importance of genetic factors would not be surprising if the effect of the putative major gene is to enhance susceptibility to effects of cigarette smoking. Finally, our investigation demonstrates the feasibility of dissecting residual familial effects on complex multifactorial tra

ISSN:0001-5652    

DOI:10.1159/000153958

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

For the purpose of applying DNA fingerprinting to parentage or other extended blood relationship testing, we have developed a general system for estimating blood relationship between a set of individuals. This system can be used for any blood relationship testing, even if critical family members are unavailable. A general formula for calculating the probability of such relationships based on Bayes’ theorem has been devised and the ability of DNA fingerprinting produced by Jeffreys’ polycore probe to determine the relationships has been evalua

ISSN:0001-5652    

DOI:10.1159/000153959

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The C3, BF, C4A and C4B polymorphisms were studied in a Tunisian population sample. The allelic frequencies for C3 were S = 0.844 and F = 0.148, and for BF, S = 0.535, F = 0.331, S07 = 0.075 and F1 = 0.041. The most frequent C4 alleles were A3 and B1 followed in a decreasing order by A2, B2 and the A and B null alleles. The results indicate that the Tunisian population is intermediate between the Caucasian and Arab populations with some trace admixture of African Blacks.

ISSN:0001-5652    

DOI:10.1159/000153960

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Type I collagen, the most abundant of the collagen protein family, is encoded by two genes, COL1A1 and COL1A2. Two random population samples, one from central Italy and one from southern Italy, were studied for 1 restriction fragment length polymorphism (RFLP) of COL1A1 (Rsal) and 3 RFLPs of COL1A2 (EcoRI, RsaI and MspI). A considerable heterogeneity for COL1A1/Rsal was found not only between Italians and English but even among Italians. The potential usefulness of these RFLPs and haplotypes as anthropogenetic markers, particularly in distinguishing Caucasoids from Negroids, has been discussed.

ISSN:0001-5652    

DOI:10.1159/000153961

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

ABO and Rh blood groups in 344 filarial patients and 320 controls matched with respect to age, community and residence are reported. An excess of B and a deficiency of AB was observed among the filarial patients. The relative risks for the B and AB were 1.53 and 0.36, respectively. Only males showed clearly significant risks. The Rh(D) blood groups revealed no association with filariasis.

ISSN:0001-5652    

DOI:10.1159/000153962

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The frequency of the CHE1*K allele was estimated as 2.04 ± 2.02% in a population sample from Southern Brazil. Previously reported estimates refer to the British population and are significantly higher than the present one. Our hypothesis is that the British frequencies may represent overestimates due to ascertainment conditions

ISSN:0001-5652    

DOI:10.1159/000153963

出版商:S. Karger AG    

年代:1990

数据来源: Karger