摘要:

Restriction fragment length polymorphism (RFLP) of the cartilage-specific type II collagen gene has been studied in the Finnish population. Two high-frequency alleles, also reported in other populations, were detected. The Hind lll allele had a frequency of 0.33, and that detected with Pvu II a frequency of 0.46. Both of these frequencies resembled the ones reported for other populations. Also one Bam HI allele, not earlier reported, was found at a low frequency. Two other previously reported polymorphisms for BamHI and EcoRI were not detected in the Finnish population. The RFLPs showed a fair agreement with the Hardy-Weinberg equilibrium. A linkage disequilibrium was found between PvuII and Hindlll markers. The α1(II) collagen gene seems to be more conserved in populations of various origins than the α2(I) collagen gene. These polymorphic collagen markers would be useful in linkage studies of various inherited cartilage disorder

ISSN:0001-5652    

DOI:10.1159/000153760

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Restriction fragment length polymorphisms of the L1.28 probe which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria. The frequency of the A2 allele (9-kb fragment) was 0.23, 0.55 and 0.46 in England, India and Nigeria, respectively. The differences between the English and Indian populations were highly significant.

ISSN:0001-5652    

DOI:10.1159/000153761

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

α-Galactosidase and β-galactosidase activities have been determined in leukocyte preparations from 100 randomly selected Chinese adults. For α-galactosidase, two groups with low activities were identified: group I consisted of 3 females having activities below 40% of normal, and group II consisted of 5 males and 1 female with activities about 60% of normal. Family studies suggested that these low α-galactosidase activities are genetically determined. Only 1 individual was found to have about 50% of normal β-galactosidase activity; presumably he is a carrier for β-galactosidase deficiency (GM1 gangliosid

ISSN:0001-5652    

DOI:10.1159/000153762

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The genetic polymorphism of three salivary enzymes (esterase, glucose-6-phosphate dehydrogenase and amylase) was studied in 580 autochthonous individuals from the Galician population (North-West Spain). The gene frequencies obtained were: SetF = 0.4036, Sets = 0.5964; Sgd1 – 0.7828, Sgd2 = 0.2172; AMY11 = 0.9319, AMY21 = 0.0495, AMY31 = 0.0186. Evidence of genetic intrapopulational heterogeneity was found for Set and Sgd loci. An alternative method for AMY1 typing by means of isoelectric focusing is proposed which allows the use of long-term stored saliva sample

ISSN:0001-5652    

DOI:10.1159/000153763

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Factor I (C3b inactivator) polymorphism in the Japanese (in Western and Southern Japan), Taiwanese, Nepalese and French was studied using isoelectric focusing on polyacrylamide gels. The exposure of passively blotted nitrocellulose membranes to glutaraldehyde vapor facilitated the subsequent immunodetection of a low concentration of factor I and permitted the reliable identification of the three phenotypes determined by two codominant alleles F1*A and FI*B. The data indicated a west-to-east genocline, ranging from France to Western Japan, in which FI*A changed from 0.006 to 0.120.

ISSN:0001-5652    

DOI:10.1159/000153764

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Twenty-eight Hb abnormalities (16 thalassemias, 10 Hb variants and 2 hereditary persistences of fetal hemoglobin) were detected in an etiopathogenic search in 131 patients with hemolytic anemia. The observed thalassemic genotypes [6 β°/β, 2 (δβ)°&slash;β°, 2 β°/ β+, 2 β°/β s, 2 β+/β+, 1 β+/β s and 1 (δ β)°&slash;β] showed heterogeneity in the population studied. A native origin of some of these mu

ISSN:0001-5652    

DOI:10.1159/000153765

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The genetic polymorphism of eight red cell enzymes was examined in three samples from Gran Canaria and one from Equatorial Guinea. The presence of African genes in the Gran Canaria population showed an African admixture estimated to 6–9%. The genetic distance between Gran Canaria and Equatorial Guinea was 0.033, and that between Gran Canaria and the Spanish mainland only 0.00

ISSN:0001-5652    

DOI:10.1159/000153766

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The distribution of the phenotypes of alpha-1-antitrypsin (Pi) was investigated in a Swiss population sample of 1,148 unrelated individuals using isoelectric focusing with a immobilized pH gradient. A short focusing period of only 2 h using highvoltage is an additional asset of this modified method. All common as well as the rarer phenotypes were reliably detected. However, detection of Pi M4 required a narrower pH range as chosen for routine work. The allele frequencies found were: PiM1: 0.7121; PiM2: 0.1381; PiM3: 0.0976; Pis: 0.0383; Piz: 0.0113; PiVar(I, N, V.Vdon): 0.0026.

ISSN:0001-5652    

DOI:10.1159/000153767

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The presence of the rare Lewis phenotype Le(a+b+) is reported in various Polynesian groups, including Maoris, Samoans, Cook Islanders, Nuieans and Tokelau Islanders. The phenotype was found in Polynesians of all blood groups and the frequency was significantly increased in group 0 persons. The phenotype was not significantly associated with H reactivity in group A donors and showed no correlation with age or sex.

ISSN:0001-5652    

DOI:10.1159/000153768

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Haptoglobin and transferrin types were determined for 27 multiple myeloma patients and a series of case controls. No association was found between haptoglobin and the disease, which confirms the findings of an earlier investigation. However, we found a significantly increased relative risk of 2.6 for TFCICI individuals. It is suggested that the role of transferrin in erythropoiesis and cell proliferation of both malignant and normal cells, may, at least in part, explain the association. Of additional relevance may be the suggestion that TFClCI individuals have higher blood iron levels than other subtypes.

ISSN:0001-5652    

DOI:10.1159/000153769

出版商:S. Karger AG    

年代:1988

数据来源: Karger