摘要:

A low frequency red cell antigen, SHIN, was detected in two Japanese blood donors. Red cells of the first propositus reacted, in pretransfusion tests, with the serum of a previously untransfused male patient. The second propositus was disclosed when anti-SHIN was used to screen red cells from 3,000 random blood donors in Tokyo: a frequency of 0.03% in this population. Family studies showed SHIN to be inherited as an autosomal dominant character and not to be part of the MNS, FY, JK or P1 blood group systems. Anti-SHIN is not a common antibody in normal sera but was found in about 10% of multispecific sera used in investigation of low frequency antigens.

ISSN:0001-5652    

DOI:10.1159/000154119

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Haptoglobin subtypes have been determined in two population samples, one of them from the Pyrenean Valley of Pallars Sobirá in the province of Lérida and other from the Garrotxa region, province of Gerona. The obtained frequencies have been compared with other Pyrenean and European populations. Our results contrast with the absence of HP*2FF in the north-eastern district of the Pyrenees and suggest a more extensive distribution of this allele in European population

ISSN:0001-5652    

DOI:10.1159/000154120

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.

ISSN:0001-5652    

DOI:10.1159/000154121

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Variation at ten polymorphic loci (ABO, RH, PGD, ACP, PGM1, GLOl, ESD, ADA, GC, TF) was studied in a sample of 326 Buryat newborns from Ulan-Ude. The genetic relationships between Buryat and other Mongoloids from Central and Northern Asia were assessed; close similarity was found between the Buryat, Mongol, Yakut, Chulym and Kyzyl populations.

ISSN:0001-5652    

DOI:10.1159/000154122

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Genetic chiasma interference occurs when one crossover influences the probability of another crossover occurring nearby. While interference is known to occur in humans, it is typically ignored when computing multipoint likelihoods for genetic mapping. This biologically unsound assumption of no interference facilitates the calculation of the likelihoods at the expense of reduced power to accurately construct a genetic map. We have developed a computer program that calculates multipoint likelihoods of three-generation nuclear families while taking interference into account. In our program, interference is modelled by using a map function to convert genetic distances into recombination fractions. We can determine which of several map functions best fits the data by comparing the multipoint likelihoods of the data under each map function. Since the distribution of the difference between likelihoods is unknown, we use a simulation approach to determine the statistical significance of our results. When our program is applied to six loci, D10S34, D10S19, D10S16, D10S14, D10S4, and D10S20, from the CEPH consortium map of chromosome 10, we find significant evidence in favor of positive interference as modelled by the Sturt map function.

ISSN:0001-5652    

DOI:10.1159/000154123

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A pair of blood-group-chimeric twins, TS and MR and their family have been investigated with the single-locus-probe DNA technique for restriction fragment length polymorphism in five variable-numbers-of-tandem-repeat systems. An admixture of DNA from the other twin could be demonstrated in both twins, leading to a possible false-genotype determination in at least one system. Chimerism is a potential pitfall in DNA investigations with single-locus probes in forensic genetics.

ISSN:0001-5652    

DOI:10.1159/000154124

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The NcoI RFLP of the tumor necrosis factor (TNF) β gene was analyzed in a panel of f 105 unrelated healthy Italian blood donors. The gene frequencies of the f 0.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DRI7.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism

ISSN:0001-5652    

DOI:10.1159/000154125

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The risk of ovarian and other cancers was assessed in first-degree relatives of patients with ovarian cancer from an analysis of 391 pedigrees. Overall there was a significant increase in the risk of ovarian cancer (4.5-fold; p < 0.001). The risks were 14.2– (p < 0.001), 5.2– (p < 0.001) and 3.7-fold (p < 0.001) for relatives of patients diagnosed before 45, between 45 and 54 and after the age of 55, respectively. There was no significant increase in the risk of cancers of the uterus, stomach, lung, colorectum or prostate. There was, however, an overall increase in the risk of breast cancer (1.3-fold; p < 0.05). The risk was highest for those relatives of patients diagnosed with ovarian cancer before the age of 55 (2.2-fold; p < 0.01). These results support the role of genetic factors in the aetiology of ovarian cancer and provide further evidence for the existence of a breast-ovarian family cancer syndrome, which may result from the pleiotropic effects of the same gene in some famil

ISSN:0001-5652    

DOI:10.1159/000154126

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Three methods were employed to assess whether human volunteers (Caucasian, Asian or Cree Indian) possessed the typical or atypical mitochondrial aldehyde dehydrogenase (ALDH2) isozyme. These methods were: (1) questionning individuals about facial flushing responses following alcohol consumption; (2) application of the ethanol skin patch test, and (3) direct analysis using isoelectric focusing and activity staining of ALDH activity in hair root samples. The results from the three methods were in good agreement and revealed that only the typical ALDH2 isozyme was expressed in Saskatchewan Cree Indians. In agreement with previous reports, the typical ALDH2 was expressed in the Caucasian group of subjects, while both the typical and atypical forms were expressed in the Asian subjects.

ISSN:0001-5652    

DOI:10.1159/000154127

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Group-specific component (GC), transferrin (TF) and α-1-antitrypsin (PI) polymorphisms have been studied in the Basque population of Alava. The following gene frequencies were found: GC*1S = 0.525, GC*1F = 0.109, GC*2 = 0.366; TF*C1 = 0.793, TFC*2 = 0.171, TF*C3 = 0.032, TF*B = 0.003; PI*M1 = 0.611, PI*M2 = 0.164, PI*M3 = 0.101, PI*M4 = 0.019, PI*S = 0.101, PI*T = 0.003, PI*Z = 0.002. These results show that there is heterogeneity within the Basque population. In comparison with other populations from the Iberian Peninsula, the Basques from Alava show significant differences only for the PI system

ISSN:0001-5652    

DOI:10.1159/000154128

出版商:S. Karger AG    

年代:1993

数据来源: Karger