摘要:

In a previous study of psoriatic patients we found increased serum levels of the pregnancy zone protein (PZ) in individuals of blood groups·and Fy(a-). In this study we found an association between the PZ serum level and the Fy(a-) blood group also in young healthy males. Thus the association between the PZ serum level and Duffy blood groups appears to apply to both normal and pathological conditions

ISSN:0001-5652    

DOI:10.1159/000153054

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The glyoxalase 1 polymorphism was studied in 1,490 unrelated subjects from three different areas of Italy (Milan, Rome and Naples). The following frequencies of GLO2 allele were observed: Milan 0.57, Rome 0.59, Naples 0.61, and a significant difference between Milan and Naples was found (p < 0.02). An anomalous phenotype is also described which permits us to postulate a new allele producing an isozyme with low activity and electrophoretically slower than those corresponding to GLO1and GLO2alleles.

ISSN:0001-5652    

DOI:10.1159/000153055

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Phenotypes of glyoxalase I (GLO) were determined in 1220 unrelated adults from all parts of Denmark giving the gene frequencies GLO1 = 0.4311 and GLO2 = 0.5689. The segregation of phenotypes in 59 families and in 455 mother-child pairs was consistent with the assumed autosomal codominant inheritance. The results of an investigation of 379 parternity cases with respect to exclusions of non-fathers by means of the GLO system are reported, and the application of the GLO system to paternity cases is discussed.

ISSN:0001-5652    

DOI:10.1159/000153056

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Clinical and haematological findings of 164 Turkish β-thalassaemic heterozygotes with increased Hb-A2 are presented. The series comprised of 19 children, 81 females and 64 males. The majority of these thalassaemic individuals were asymptomatic and only 4 of them had slight or moderate splenomegaly. The mean values of haemoglobin concentration, PCV, MCH and MCHC were significantly lower than those of the corresponding normal controls. Erythrocytosis was present in 33% of them. Hb-A, values ranged between 3.8 and 6.1%, and between 3.8 and 6.5% as assessed by the methods of DEAE- or DE-cellulose chromatography, respectively. Hb-F was found to be above the normal range in 15.1%. It is established that β-thalassaemia with increased Hb-A2 is the most frequent variety of thalassaemia in Turkey (80%) and both β+- and β-°-thalassaemia genes were present in this country. The regional distribution of β-thalassaemia in Turkey is also presented and the origin of β-thalassaemia genes in Turkish people is dis

ISSN:0001-5652    

DOI:10.1159/000153057

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

We have examined electrophoretic variants of the third complement component (C3) in 294 controls and in 44 patients suffering from Graves’ disease, drawn from the Avalon Peninsula of Newfoundland. Two common C3 variants, S and F, account for 99% of the gene frequencies. The S homozygote phenotype was observed in 170 controls and in 27 patients; 18 controls were found to be homozygous for the F allele (3 patients), and the FS phenotype was observed in 103 controls and 14 patients. The phenotypic frequencies did not differ significantly between controls and patients. It is concluded that C3 variants do not distinguish individuals who have Graves’ dise

ISSN:0001-5652    

DOI:10.1159/000153058

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Dopamine-β-hrydroxylase (DBH) activity in serum was measured by spectro-photometric methods in 95 persons of a large family (HGAR 2), along with 27 polymorphic markers from blood, urine and saliva. The distribution of DBH activity, after appropriate transformation and age adjustment, showed a significantly better fit to a mixture of two normal distributions than a single normal distribution. Pedigree segregation analyses showed evidence of a possible major gene governing low levels of DBH activity, segregating in this family in a recessive fashion. Linkage analyses between that major locus and the 27 polymorphic markers showed no significant lod scores favoring linkage. The highest lod score obtained was 0.81 with Lp at zero recombination fraction. In addition, published data on DBH activity measured by radiochemical assays on 22 families with 161 members were reanalyzed as a quantitative trait, with appropriate correction for ascertainment bias. The results were similar to that of HGAR 2, corroborating the existence of a major locus for DBH activity

ISSN:0001-5652    

DOI:10.1159/000153059

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

ISSN:0001-5652    

DOI:10.1159/000153060

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

An electrophoretic isoenzyme variant of serum alkaline phosphatase was found in 10 out of 343 subjects belonging to an Icelandic population in Husavik and the Husavik region. 9 of the variant-positive subjects were women. The enzyme variant differs from normal isoenzymes in electrophoretic mobility, substrate specificity, and response to inhibitors. It could be demonstrated that nine of the subjects with the enzyme variant were related with each other.

ISSN:0001-5652    

DOI:10.1159/000153061

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The serum concentrations of immunoglobulin M (IgM) were measured in a sample of 93 monozygotic twin pairs, their spouses, and their offsprings. The hypothesis that the human X chromosome carries genes that control the levels of IgM was tested with two different approaches neither one of which provided conclusive evidence to support the IgM X-linked gene hypothesis.

ISSN:0001-5652    

DOI:10.1159/000153062

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The frequencies of deficiencies of glutathione reductase (GSSG-R), pyruvate kinase (PK) and gIucose-6-phosphate dehydrogenase (G6PD) in a Spanish sample are presented. A total of 2,129 individuals was analyzed for GSSG-R, 1,636 for PK, and 1,066 (629 males and 437 females) for G6PD. Beutler’s method was used. The frequencies obtained for these deficiencies were: GSSG-R, 0.09%; PK, 0.24%; and G6PD, 0.79%. The results are discusse

ISSN:0001-5652    

DOI:10.1159/000153063

出版商:S. Karger AG    

年代:1979

数据来源: Karger