摘要:

An isoelectric focusing procedure in an ultranarrow pH range (5.0–5.5) poly-acrylamide gel is described for the determination of superoxide dismutase (SOD) phenotypes. The occurrence of the rare SOD A*2 allele in the Caucasian population of Utah is also reported at a polymorphic frequency (0.011). The presence of the SOD A*2 unique allele in the Mormons of Utah is compatible with their historical affinity with Scandinavian

ISSN:0001-5652    

DOI:10.1159/000153745

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The overall prevalence rate of endemic goitre among the Fur and Baggara tribes of Western Sudan was found to be 74%. Family studies in 60 nuclear families showed a significantly higher incidence of endemic goitre among the offspring of affected parents than among the offspring of normal parents. This suggests a possible genetic predisposition to endemic goitre. The proportion of phenylthiocarbamide (PTC) non-tasters was found to be 13% among the goitrous subjects compared to 17.5% among the non-goitrous subjects. However, the association with PTC as well as with 6 bloodgenetic markers, was not statistically significant.

ISSN:0001-5652    

DOI:10.1159/000153746

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Linkage analyses of locus pairs involving IGK, JK, CO, KEL and AHCY resulted in altogether negative lod scores, thereby dwindling the reported linkage relations.

ISSN:0001-5652    

DOI:10.1159/000153747

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The group-specific component (Gc) subtypes were determined by isoelectric focusing and immunoblotting. The gene frequencies in the Swedish Lapps were Gc1F = 0.412, GcIS = 0.367 and Gc2 = 0.221, which was significantly different from the frequencies found in Finns and in the populations of northern and central Sweden (p < 0.001). The gene frequencies in the Swedish Lapps, although similar to those in Asiatic populations, are probably not reflecting an Asiatic influence, since the accumulated genetic information on the Swedish Lapps suggests that founder effect and genetic drift are to a large extent responsible for the peculiar gene pool of the original Lapp population.

ISSN:0001-5652    

DOI:10.1159/000153748

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

D1S2 was one of the first restriction fragment length polymorphisms (RFLPs) assigned to chromosome 1, but its regional location was unknown. In this paper we present data that place this RFLP into both the genetic map and the physical-cytogenetic map. Linkage data maps D1S2 7 cM from PGMl, which is localized to the middle of the short arm at 1p22.1. Southern blot analysis of DNA samples from somatic cell hybrids containing parts of chromosome 1 maps D1S2 proximal to 1p32 and distal to PGM1.

ISSN:0001-5652    

DOI:10.1159/000153749

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The distribution of phenotypes of alpha-1-antitrypsin (Pi) in 1,062 unrelated Swedes was determined by isoelectric focusing with carrier ampholytes. The frequencies calculated were: PiM1 = 0.6940, PiM2 = 0.1384, PiM3 = 0.1139, Piz= 0.0231, Pis = 0.0245, PiF = 0.0038, Pivar = 0.0024. A mother-child material consisting of 194 pairs is also presented.

ISSN:0001-5652    

DOI:10.1159/000153750

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Placental alkaline phosphatase types were studied in 435 samples from Punjab (India). A comparison between women with normal and complicated obstetric histories revealed a statistically significant associations between the PI1 alleles and higher survival rate of the fetus. The Pl2 and Pl3 alleles were found to be associated with higher rates of fetal loss and various complications of pregnancy.

ISSN:0001-5652    

DOI:10.1159/000153751

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

A simple method for the preparation of lymphoblastoid cell lines from small amounts (100 µl) of frozen whole blood is described. A success score greater than 90% was obtained for EBV stransformations using blood samples which had been collected several months before the infection. Due to the simplicity of the technique, up to 80 samples could be processed per day. This technique was used to prepared 242 permanent cell lines from 13 large families from Réunion Island showing blood group H deficiency. These cell lines are now available for genetic studie

ISSN:0001-5652    

DOI:10.1159/000153752

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Serum protein markers (α1-AT, Bf, C3, C4A, C4B, Hp and Tf) were studied in a series of 36 patients with systemic lupus erythematosus (SLE) and compared to normal blood donors. In agreement with the results of previous investigations a significant increase of complement C4 deficiency was found among the SLE patients. The relative risks for AQO and BQ0 homozygosity were 7.2 and 4.1, respectively. Simultaneous occurrence of AQO and BQ0 was found in three patients with a calculated relative risk of about 65. A significant increase of the haptoglobin type 2–2 (p < 0.05) was found among SLE patients. The remaining serum protein systems showed no statistically significant associations with S

ISSN:0001-5652    

DOI:10.1159/000153753

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Complement C4 phenotype distribution was studied in 64 patients with dementia of the Alzheimer type. In contrast to reported findings we failed to find a significant association between C4B2 gene frequency and Alzheimer’s dementi

ISSN:0001-5652    

DOI:10.1159/000153754

出版商:S. Karger AG    

年代:1988

数据来源: Karger