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Biomedical subjects

A W Eriksson

Publications and source records attributed to A W Eriksson.

At least 109 records · Page 6Linked to original sources
PubMed1982

The genetic structure of Iceland.

Gene frequencies and parent-offspring migration data from nine geographic subdivisions in Iceland are analyzed. Estimated values of FST show high genetic homogeneity. Genetic maps are studied and the results are interpreted in the light of social and historical patterns. Actual road distances between subdivisions provide a slightly better indication of geographic isolation by distance than do straight-line distances. A high correlation between genetic structure predicted by migration data and the structure estimated from gene frequencies is obtained.

Aged↗
PubMed1981

Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia.

Fanconi's anaemia (FA) is an autosomal recessive disorder characterized by a high frequency of 'spontaneous' chromosomal aberrations and an increased risk of cancer. If, as seems plausible, the microscopically visible chromosomal aberrations in this disorder result from DNA or chromatin damage that would normally be repairable, the questions arise as to which step (or steps) in the repair process is deficient and whether the deficiency is intrinsic or the result of secondary factors. We report here that the frequency of chromosomal aberrations in FA lymphocyte cultures is positively related to oxygen tension and suggest that the site primarily affected by the FA mutation is in the complex system of defence (that is, protection and repair) against the genetic toxicity of oxygen.

Adult↗
PubMed1981

Recent investigations of the first bleeder family in Aland (Finland) described by von Willebrand.

The still living members of the original bleeder family on the Aland Islands described by von Willebrand in 1926 have been reinvestigated by using modern laboratory techniques for the measurement of the Factor VIII complex and with regard to platelet aggregation. The low level of F VIII : C activity demonstrated in 1957 could be confirmed in some of the family members, who however all had only mild bleeding symptoms. More consistently, in 6 out of 10, a low F VIIIR : Ag was found; all of those also had a low F VIII : RCoF. In none of the members were excessively low values for any of the parameters found. However, the spectrum of the whole F VIII complex indicates that the original family described by von Willebrand belongs to von Willebrand's disease, type I.

Adolescent↗
PubMed1981

Alpha 1-antitrypsin and acute anterior uveitis.

To test the pathogenetic role of the phenotype MZ of alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) in acute anterior uveitis (AAU), 156 patients with AAU were examined. Sera of all patients and 120 healthy controls were PI-typed using isoelectric focusing. There were no significant differences in PI MZ frequencies either between the patients with AAU (4.5%) and the controls (4.2%), or between AAU patients with associated rheumatic diseases (4.8%) and AAU patients with no associated disease (4.3%). The results indicate that the PI MZ type is not closely associated with AAU among Finns.

Acute Disease↗
PubMed1981

The Gm--Pi linkage heterogeneity in view of Pi M subtypes.

In this study linkage between the loci for Gm (gamma-type heavy-chain immunoglobulin markers) and Pi (alpha 1-antitrypsin/alpha 1-protease inhibitor) has been shown in families segregating for the Pi M subtypes (M1, M2, M3 and Msal) as identified by separator isoelectric focusing . The estimate for the Gm--Pi (M type) recombination is 0.29 (95% limits 0.24--0.37) at a peak lod score of 4.31 and with no sex difference. This value is not significantly different from updated recombination frequency estimates for Gm--Pi in Pi MS (0.26) and Pi MZ, SZ and FZ families (0.21). The overall Gm--Pi recombination fraction estimate of 0.26 (95% limits 0.23--0.30) at a peak lod score of 20.75 must now be considered as solid. There is a significant heterogeneity within the male Pi MZ families in that the new Finnish families show a higher recombination between Gm and Pi. There is also a possible segregation distortion (Z:M = 23:8). The heterogeneity is discussed in terms of haplotypes, the behaviour of which could be determined by linked genes or chromosomal rearrangements. The possibility that the alpha 1-antitrypsin level influences recombination frequency has not been ruled out, but cannot explain the heterogeneity within Pi MZ families.

Alleles↗
PubMed1981

Comparison of the PI patterns of alpha 1-antitrypsin on acid starch gel electrophoresis and isoelectric focusing.

An acid starch gel electrophoresis procedure was developed for recognition of PI M subtypes of alpha 1-antitrypsin, proving that their electrophoretic mobilities correspond to their relative isoelectric points on isoelectric focusing. From transfer experiments, it could be concluded that the PI patterns obtained after acid starch gel electrophoresis and isoelectric focusing are formed by identical molecular populations. These findings justify the replacement of acid starch gel electrophoresis by isoelectric focusing as the method of choice for typing, including the assignment of new PI variants.

Electrophoresis, Starch Gel↗
PubMed1980

Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism.

On the basis of clinical data, it had previously been proposed that the Forsius-Eriksson syndrome is identical to Nettleship-Falls X-linked ocular albinism. We performed biopsies of clinically-normal skin in patients with the Forsius-Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship-Falls X-linked ocular albinism. There were no abnormalities in the melanosomes of patients with Forsius-Eriksson syndrome. Thus, this syndrome is distinct from the Nettleship-Falls disorder.

Albinism↗
PubMed1980

A new unstable PI M variant of alpha 1-antitrypsin in a Finnish isolate.

During family and population studies in a Finnish isolate (Salla), a variant of alpha 1-antitrypsin, tentatively called PI MSAL was found. On isoelectric focusing this variant was slightly cathodal to M3. With the aid of acid starch gel electrophoresis, differentiation from M3 proved reliable, because the variant was unstable in that system. The variant also showed an increased lability at + 56 degrees C and physiological pH and a decreased stability at pH 4.5 and room temperature compared to the other M subtypes. By genealogical studies it was possible to trace a common ancestor, a settler arriving to the parish around 1680, for the three families where the variant was found.

Electrophoresis, Starch Gel↗
PubMed1979

Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay.

Erythrocyte superoxide dismutase (SOD; E.C.1.15.1.1) levels were quantitated in human haemolysates, both by an immunological technique and by an activity assay. The erythrocyte SOD activity level in a group of seven Fanconi's anaemia patients was significantly decreased (27%, on the average) compared to a control group of nineteen healthy individuals. The fact that both the activity per antigenic unit and the electrophoretic mobility of the erythrocyte SOD was normal indicates that the deficiency in these Fanconi's anaemia patients is most probably not due to a mutation in the structural gene for the enzyme but more likely due to a disturbed mechanism regulating the SOD level in the erythrocyte.

Anemia, Aplastic↗
PubMed1978

Investigations on the inheritance of nemaline myopathy.

Extensive investigations on 11 patients with nemaline myopathy (six index patients, five relatives), their parents, and some healthy relatives were carried out. In one family, nemaline myopathy was inherited as an autosomal dominant trait. No linkage between the locus of nemaline myopathy and the locus of seven informative genetic markers (out of 25 investigated markers) was found. In two families an autosomal recessive inheritance could be demonstrated with certainty. In these families, both parents of each index patient had rods and an increased number of fibers with internal nuclei. In two other families, one or both parents of each index patient had an increased number of fibers with internal nuclei, also indicating the possibility of autosomal recessive inheritance in these cases. It can be concluded that there are two types of nemaline myopathy. However, these two diseases could not be separated on a clinical or histopathological basis.

Adolescent↗
PubMed1978

Reliable classification of six Pi M subtypes by separator isoelectric focusing.

For the first time, segregation of three common PiM alleles in family material is verified by application of separator isoelectric focusing. A new nomenclature system for the Pi M subtypes is used, whereby the common subtypes are designated according to their physicochemical properties; the most anodal type is called Pi M1, the intermediary one Pi M2, and the most cathodal variant Pi M3 (previously called Pi M2). Pi gene frequencies from Finnish, Dutch and Black populations are presented. The PiM2 allele was rather high in Finns (0.12) but low (0.04) in the West African Bozo. The PiM3 was found with a frequency of 0.13 in Dutch, 0.08 in Finns and 0.02 in Bozo. A previous Finnish sample was retested with the new subtyping method and the six-subtype distribution was found to be in good Hardy-Weinberg equilibrium. The validity of the Pi polymorphism for population genetics, linkage analysis and parentage testing is discussed.

Africa, Western↗
PubMed1978

Separator isoelectric focusing for identification of alpha-1-antitrypsin (Pi M) subtypes.

A modified analytical isoelectric focusing procedure on polyacrylamide gel slabs, offering increased resolving capacity, has been developed for identification of six subtypes of the most common alpha-1-antitrypsin (A-1-AT) phenotype, Pi M. Combination of commercial Ampholine and other ampoteric substances, so called separators, produces pH plateaus, determined by the properties of the the additatives. Equilibrium is reached after extended focusing time, whereby stabilization of A-1-AT through alkylation is advantagous. The significance of this high resolution method for applications of the Pi system in genetic studies, and the general relevance of the modifications for other analytical purposes are discussed. A new nomenclature recommendation is presented.

Humans↗