摘要:

The HLA-A-B-C-DR antigens and the complement factors C2, C4 and Bf were determined in 30 insulin-dependent diabetes mellitus (IDDM) patients and 30 healthy controls from northern Sweden. Family studies allowed the deduction of extended haplotypes in the HLA and complement systems. Phenotype studies revealed significant associations between IDDM and HLA-DR4 (p < 0.001), HLA-DR3 (p < 0.05), HLA-DR3/4 (p < 0.025), C4-B3 (p < 0.001) and Bf-S (p < 0.025). Haplotype studies showed that the extended haplotype [HLA-B15, C2–1, C4-A3B3, Bf-S, HLA-DR4] had a particularly strong association to IDDM. This haplotype was found in 10 out of 30 IDDM probands but in none of 30 control children and accounts for practically all the C4-B3 allotypes among the 30 IDDM probands. The C4-B3 gene therefore seems to be a valuable marker for IDDM. No haplotype containing HLA-DR3 was increased in frequency among the IDDM probands. The extended haplotype [HLA-B7, C2–1, C4-A3B1, Bf-S, HLA-DR2] present among the controls was absent in the IDDM probands. The frequency of the extended haplotype [HLA-B15, C2–1, C4-A3B3, Bf-S, HLA-DR4] was increased also among the parents to the IDDM probands compared to those of the control parents, whereas the frequency of [HLA-B7, C2–1, C4-A3B1, Bf-S, HLA-DR2] was decreased. The extended haplotype [HLA-B8, C2–1, C4-B1, Bf-S, HLA-DR3] was more common among the males (p < 0.05) compared to the females in the total material. The family analysis showed that 3 out of 5 affected sibs shared both haplotypes with their IDDM proband. This was the case for only 3 out of 35 unaffe

ISSN:0001-5652    

DOI:10.1159/000153627

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

The incidence of congenital heart disease (CHD) was examined in relation to the consanguinity of the parents. The study was performed in five Arab villages in the Western Galilee, Israel, where consanguineous matings are known to be very high. All children up to the age of 7 years were included in this study; there were 1,546 children, 32% were the offspring of consanguineous marriages including first- and second-degree cousins. A higher percentage of isolated CHD was found in the offspring of consanguineous marriages: 2.81% out of 498 children compared to 1.24% in 1,048 offspring of unrelated parents. Among 373 children whose parents were first cousins the percentage of CHD rose to 3.22. The differences in CHD frequencies were found to be statistically significant. CHD is believed to have a multifactorial background. This study shows that the genetic influence is an important factor in the etiology of such malformations.

ISSN:0001-5652    

DOI:10.1159/000153628

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Gene frequency data on 16 protein and blood group loci for the inhabitants of 9 Mediterranean countries were collected from the literature. The frequency of most of these genes was associated with longitude. The genetic distances between the same populations were also determined. The smallest genetic distances were found among the north Mediterranean countries, whereas the highest values were observed between the Algerians and the inhabitants of the other countries.

ISSN:0001-5652    

DOI:10.1159/000153629

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Restriction endonucleases have been used for the investigation of deletion type α-thalassaemias in the Saudi population. Using Bgl II digestion, we diagnosed 2 cases with 15.8- and 7.0-kb α-globin gene fragments. The 15.8-kb Bg1 II fragment is obtained in cases with rightward deletion, while the 7.0-kb fragment occurs in cases with leftward deletion. The 2 cases reported in this paper are heterozygous leftward/rightward deletion cases. The Bam HI digestion results and haematological parameter values are reported. This is the first report of heterozygous leftward/rightward deletion in the Saudi populatio

ISSN:0001-5652    

DOI:10.1159/000153630

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

We discuss the effects that a secular trend in incidence would have on estimation of familial relative risk (ratio of observed to expected cumulative incidence among relatives of index cases). For example, when age-specific incidence rates of a condition have increased during the lifetimes of relatives among whom relative risk is to be estimated, familial relative risk will be biased downward if cross-sectional, age-specific incidence data are used to estimate expected cumulative incidence among relatives. The stronger the trend and the older the ages of unaffected relatives, the greater the bias will be. Incorporating different age-specific incidence curves for different birth cohorts into the analysis is an approach we suggest for correcting the bias.

ISSN:0001-5652    

DOI:10.1159/000153631

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

The distribution of gene frequencies in the phosphoglucomutase-1 (PGM1) system was investigated in two Japanese populations from Yamaguchi (Western Japan) and Okinawa (Southern Japan) using an improved isoelectric focusing method permitting the successful detection of the most anodal variant PGM1 3 + PGM1*7 + occurred with a polymorphic frequency of 0.012–0.021. A difference in the gene frequency was observed between the two populations. In comparison with neighboring populations, the Yamaguchi population was similar to Mongolians and Koreans in North China, and Okinawa to Zhuang in South Chin

ISSN:0001-5652    

DOI:10.1159/000153632

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Eleven Southern African populations were shown to be polymorphic at the α1-antitrypsin locus. A ‘new’ electrophoretically detectable α1-antitrypsin variant (Piwsan) which has a lower isoelectric point than does PiM, was found in the Bantu-speaking Negro and San populations. Piwsan appears to be functionally normal as judged by quantitative and qualitative st

ISSN:0001-5652    

DOI:10.1159/000153633

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Pairwise linkage analyses are reported between the locus for multiple endocrine neoplasia type 2A (MEN-2A) and 20 restriction fragment length polymorphisms (RFLPs) in a single large kindred which was previously screened for linkage with this form of cancer using 23 blood group and serum protein polymorphisms. No significant, positive lod scores have been obtained so far. These 20 RFLPs have excluded the MEN2 locus from about as much of the genome as did the 23 classical markers previously reported. This is a clear demonstration of the value of RFLPs for linkage studies since these 20 RFLPs were not selected for being the most polymorphic of those available. Over 10% of the human genome has been excluded from linkage with the MEN2 locus in this particular family.

ISSN:0001-5652    

DOI:10.1159/000153634

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

ABO blood groups and haptoglobin types have been studied with special reference to their association with unipolar and bipolar affective disorders. The associations of serogenetic markers show statistically significant differences between unipolars and controls, bipolars and controls, and unipolars and bipolars. The results are largely in agreement with those reported in previous studies.

ISSN:0001-5652    

DOI:10.1159/000153635

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

In previous studies, transferrin C2 has been found to be associated with spontaneous abortion, prematurity, phototoxic eczema and rheumatoid arthritis. We have suggested that the mechanism behind these negative effects may be that transferrin C2 increases the risk for damage through hydroxyl radicals. This hypothesis predicts that the C2 frequency should decrease with age. Such an effect is demonstrated in this report. In a population from northern Sweden the C2 gene frequency was found to decrease from 0.173 in newborns to 0.099 in 70-year-old healthy individuals.

ISSN:0001-5652    

DOI:10.1159/000153636

出版商:S. Karger AG    

年代:1986

数据来源: Karger