摘要:

A total of 205 unrelated autochthonous individuals of both sexes from the population of the Aran Valley in the central Pyrenees were tested for ABO, Rh and duffy blood groups. This population is of interest because of its relative geographical and historical isolation and its specific peculiarities, such as its own language. The results show a good correlation between the principal component analysis graphic and the geographic positions of the Basque and Pyrenean populations with which the Aranese population is compared.

ISSN:0001-5652    

DOI:10.1159/000154143

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Genetic polymorphism of orosomucoid (ORM) was studied by isoelectric focusing and immunoblotting in Finns, Swedes and Swedish Saamis. The ORM2 locus was found to be monomorphic in all three ethnic groups. In the Swedish sample the frequency of the ORM1*2 allele (0.414) was within the range found in other European populations, whereas Finns (0.282) and Saamis (0.210) showed significantly lower ORMl*2 frequencies. The extremely low ORM1*2 frequency in the Saamis further underlines the genetic uniqueness of this population. The ORM1*2 frequency in Saamis resembles those in Asiatic Mongoloid populations, but this is unlikely to reflect an Asiatic influence, since the accumulated knowledge on genetic markers in the Saamis show no unequivocal evidence for an Asiatic influence in this population.

ISSN:0001-5652    

DOI:10.1159/000154144

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

When the mode of inheritance of a disease susceptibility (DS) gene is unknown, the affected sibling method can be applied to study whether a DS gene and a marker gene are linked. This method considers how k affected siblings (k ≧2) share marker alleles identically by descent from their parents. Several non-parametric and likelihood ratio test statistics have been proposed for the use with affected sibling marker gene data. We compare the power of these proposed tests for linkage under different genetic models via simulation. We find that, in general, the likelihood ratio tests are slightly more powerful, but the gain in power may not warrant the additional computation burden impose

ISSN:0001-5652    

DOI:10.1159/000154145

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Familial amyloidotic polyneuropathy (FAP) in Swedish patients is associated with the same transthyretin mutation (TTRMet30) as in Portuguese, Japanese, Brazilian and Majorcan patients. Yet, the age of onset of FAP is much later in Sweden than in other populations. We have studied 239 cases of FAP from northern Sweden, their geographical distribution, differences in age of onset, and estimated prevalence and incidence rates. Cases and families concentrate mainly in two areas, around the towns of Skellefteå and Piteå. Mean age of onset was found to be later in the Piteå (58.8 ± 10.8) than in the Skellefteå area (54.4 ± 13.5). Unusually high figures were found for prevalence rates (91 × 10–5 and 104 × 10–5, respectively) in 1985. Mean yearly incidences were 3.1 × 10–5 and 4.4 × 10–5, respectively, over the

ISSN:0001-5652    

DOI:10.1159/000154146

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

An analysis of 274 non-ΔF508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the ΔF508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel electrophoresis analysis of exons 3, 4, 7, 11, 12, 13, 14a, 17b, 19 and 20. Direct sequencing was carried out if necessary. This approach allowed us to identify 3 novel mutations, namely M348K, D614G and F693

ISSN:0001-5652    

DOI:10.1159/000154147

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A case-control study on the association between genetic markers (ABO, Rh, MNSs and sex) and typhoid fever (TF) was performed. We found that (a) the B allele conferred protection to females for TF and a mild susceptibility to males; (b) the CDe haplotype (or the RH3 phenotype, mostly CDe/CDe) was associated with protection against Salmonella in both sexes, while cDE (or RH7, mostly cDE/cDE, and RH8, mostly cDE/cde) was associated with susceptibility to TF, and (c) heterozygotes Ss (MNSs system) had a high susceptibility, while SS and particularly ss homozygotes seemed to be protected for the disease. There were very significant interactions among the blood systems and sex.

ISSN:0001-5652    

DOI:10.1159/000154148

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

HLA typing was carried out in a group of twenty-four Spanish unrelated patients diagnosed with conventional high-grade osteosarcoma. All of them were typed for HLA-A and HLA-B antigens. A significant increase in the HLA-A11 (33.3 vs. 12%, χ2 = 9.752, corrected p value = 0.016) and HLA-B7 (33.3 vs. 11.3%, χ2 = 10.919, corrected p value = 0.011) was found in osteosarcoma patients compared with the control group. A trend towards an increased frequency in HLA-A24 and HLA-A28 antigens was also foun

ISSN:0001-5652    

DOI:10.1159/000154149

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A new HindI polymorphism for the human serotonin 1D receptor variant (5-HT1Dβ) is reported. In light of evidence indicating possible dysfunction of the 5-HT neurotransmitter system in schizophrenia, this new 5-HT receptor polymorphism was tested for linkage to schizophrenia in 5 Canadian pedigrees. Although 1 of the 5 pedigrees tested had a slightly positive lod score, there was no evidence overall for linkage to schizophrenia under dominant, recessive, or two locus models

ISSN:0001-5652    

DOI:10.1159/000154150

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A large body of data suggests that perturbations in brain dopaminergic transmission play a role in the pathogenesis of schizophrenia. Recently, the gene for the human dopamine transporter has been cloned and polymorphisms have been identified. Because mutations of the dopamine transporter gene might underlie the cause of schizophrenia in a subset of families, we undertook a linkage analysis between schizophrenia in 9 families and a dopamine transporter gene polymorphism. Evidence of linkage was not found in most families assuming autosomal dominant or recessive inheritance.

ISSN:0001-5652    

DOI:10.1159/000154151

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A sample from Malawi was studied for the genetic markers haptoglobin (HP), group-specific component (GC) and transferrin (TF). The following allele frequencies were found. For HP: 1F = 0.355, 1S = 0.204, 2FS = 0.396, 2SS = 0.044; the allele 2FF was not observed. For GC: 1F = 0.814, 1S = 0.057, 2 = 0.079, 1A1 = 0.047, 2A1 = 0.0025. For TF: C1 = 0.894, C2 = 0.075, C3 = 0.0026, D1 = 0.029. The HP subtype distribution is among the first to be reported for African blacks.

ISSN:0001-5652    

DOI:10.1159/000154152

出版商:S. Karger AG    

年代:1993

数据来源: Karger