Electrophoretic variants of blood proteins in Japanese

Asakawa, Jun‐ichi; Satoh, Chiyoko; Takahashi, Norio; Fujita, Mikio; Kaneko, Junko; Goriki, Kazuaki; Hazama, Ryuji; Kageoka, Takeshi

doi:10.1007/bf00279312

Cited by 5 publications

(2 citation statements)

References 17 publications

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“…By now there is sufficient experience with protein variants studied both by 1-D E and 2-D PAGE that some tentative generalizations concerning the relative efficiency of the two approaches seem appropriate. As of this writing, we are aware of studies on the resolution in a 2-D PAGE system of 34 variants, involving 8 proteins, first detected by 1-D E (Wanner et al 1982;Fujita et al 1985;Asakawa et al 1984;Asakawa, unpublished). Of the 34 variants detected with I-D E, 11 were not detected with 2-D PAGE.…”

Section: Discussionmentioning

confidence: 99%

Heterozygosity and ethnic variation in Japanese platelet proteins

et al. 1988

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Sixty-two polypeptides visualized on silver-stained two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) preparations of platelets from 85 Japanese subjects, in total 5,252 spots, have been scored for genetic variation. Inherited variants of 11 of the polypeptides were recognized; the index of heterozygosity was 2.4% +/- 0.2%. Thus far, 10 genetic polymorphisms identified by 2-D PAGE of plasma, erythrocytes, or platelets have been identified in both Japanese and Caucasian subjects. A comparison of allele frequencies reveals four significant ethnic differences. We also observed four polypeptides exhibiting a low frequency polymorphism in one group but not in the other, as well as three polymorphisms in Caucasians for which no counterpart polypeptide has thus far been recognized in the Japanese group and, vice versa, 11 such polymorphisms in Japanese. Although a similar comparison of 7 enzyme polymorphisms studied with one-dimensional electrophoresis (1-D E) in the same populations revealed a relatively higher number of significant ethnic differences, evidence is presented that this is due primarily to the greater number of 1-D E observations entering into the calculation. It is argued that this similarity in the frequency of ethnic differences among the polypeptides studied by 2-D PAGE and by 1-D E is further evidence that the proteins revealed by 2-D PAGE do not differ greatly in their response to the interplay of mutation, selection, and drift from those revealed by 1-D E studies of plasma proteins and erythrocyte enzymes.

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Section: Discussionmentioning

confidence: 99%

Heterozygosity and ethnic variation in Japanese platelet proteins

et al. 1988

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“…About 30 patients with this defect have been reported (Dreyfus and Khan, 1984;Valentine and Paglia, 1984;Rosa et al, 1985). In some the mutation resulted in a decreased activity in the range of 3-10 per cent of controls, while in others reduced heat stability or modified electrophorectic patterns have been found (Skala et al, 1977;Vives-Corrons et al, 1978;Kaplan et al, 1968;Asakawa et al, 1984).…”

Section: Introductionmentioning

confidence: 99%

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

et al. 1987

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A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.

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Hereditary triose phosphate isomerase deficiency: seven new homozygous cases

et al. 1985

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Seven new homozygous cases of hereditary triosephosphate isomerase (TPI) deficiency have been detected in five unrelated families. Two of the families originate in France, the others from Algeria, Yugoslavia, and Morocco. Only the parents coming from Algeria and Morocco were first cousins. In the other parents no evidence of consanguinity was found. All seven patients exhibited the same symptoms, i.e. hemolytic anemia appearing very early after birth associated with progressive neuromuscular symptoms. Expression of the deficiency is heterogeneous; this had previously been pointed out in the previously reported cases of TPI deficiency. Red cell TPI activity was 3 to 4% of the normal mean in the patients and 50 to 60% in the parents. The latter did not exhibit any clinical symptoms. The levels of red cell glycolytic intermediates and the characteristics of the mutated TPI could be studied in four of the patients only. Substantial increases of red cell dihydroxyacetone phosphate and of fructose 1,6-diphosphate, normal Km of TPI for glyceraldehyde phosphate, and thermoinstability of the enzyme were found. In addition the electrophoretic pattern showed no significant modification of the mobility of the TPI bands, but abnormal decreased staining of the two more anodal bands.

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Electrophoretic variants of blood proteins in Japanese

Cited by 5 publications

References 17 publications

Heterozygosity and ethnic variation in Japanese platelet proteins

Heterozygosity and ethnic variation in Japanese platelet proteins

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases

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